The outcome with the variant on RNA or protein functionality, according to experimental evidence from submitters.
This worth is calculated by NCBI dependant on information from submitters. Study our guidelines for calculating the review position. The number of submissions which add to this overview status is demonstrated in parentheses.
This date signifies the final time this VCV document was up-to-date. The update can be resulting from an update to among the provided submitted records (SCVs), or as a consequence of an update that ClinVar created into the variant which include adding HGVS expressions or a rs quantity.
The worldwide minor allele frequency calculated from the 1000 Genomes Project. The minor allele at this site is indicated in parentheses and could be various with the allele represented by this VCV document.
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There won't be any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, be sure to consider publishing that details to ClinVar.
The distributing Business for this submitted (SCV) history. This column also involves the SCV accession and version range, the date this SCV initially appeared in ClinVar, as well as the date that this SCV was thr777 final up-to-date in ClinVar.
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Stars signify the combination evaluate standing, or the level of evaluation supporting the combination germline classification for this VCV document.
The volume of variants in ClinVar for this gene, such as smaller sized variants inside the gene and larger CNVs that overlap or absolutely consist of the gene.
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