Helping The others Realize The Advantages Of thr777
Helping The others Realize The Advantages Of thr777
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the impact of sequence modifications on RNA splicing propose that this variant may possibly make or fortify a splice web page. In summary, the obtainable evidence is currently inadequate to determine the role of the variant in sickness. Hence, it's been categorized like a Variant of Unsure Importance.
This price is calculated by NCBI dependant on info from submitters. Browse our regulations for calculating the evaluation standing. The volume of submissions which contribute to this overview position is shown in parentheses.
This day signifies the last time this VCV document was up to date. The update can be because of an update to among the list of included submitted data (SCVs), or as a result of an update that ClinVar designed into the variant like adding HGVS expressions or even a rs amount.
The global minor allele frequency calculated by the a thousand Genomes Job. The minimal allele at this site is indicated in parentheses and could be unique with the allele represented by this VCV file.
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Examine our regulations for calculating the critique standing. This column also includes a backlink towards the submitter’s assertion criteria if delivered, and the gathering thr777 system.
The submitting Firm for this submitted (SCV) document. This column also incorporates the SCV accession and version range, the date this SCV initially appeared in ClinVar, as well as the day that this SCV was previous updated in ClinVar.
These citations are determined by LitVar utilizing the rs amount, so They could consist of citations for multiple variant at this locale. Remember to evaluate the LitVar success meticulously for your personal variant of curiosity. File past updated Could 19, 2024
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Stars represent the combination overview status, or the extent of assessment supporting the combination germline classification for this VCV report.
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The internet site is secure. The https:// guarantees that you will be connecting into the official Web site and that any data you deliver is encrypted and transmitted securely.
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