The outcome of your variant on RNA or protein operate, according to experimental evidence from submitters.
This worth is calculated by NCBI determined by info from submitters. Read our guidelines for calculating the evaluation status. The quantity of submissions which contribute to this review status is demonstrated in parentheses.
This date represents the final time this VCV history was current. The update may be resulting from an update to one of the integrated submitted records (SCVs), or resulting from an update that ClinVar built to the variant for instance incorporating HGVS expressions or maybe a rs range.
This column includes more details supporting the classification, such as citations, the touch upon classification, and in-depth evidence offered as observations on the variant through the submitter.
The issue to the classification, furnished by the submitter for this submitted (SCV) report. This column also involves the impacted position and allele origin of people noticed with this variant.
The combination germline classification for this variant, typically for a monogenic or Mendelian disorder as inside the ACMG/AMP tips, or for response to a drug. This benefit is calculated by NCBI based on details from submitters. Browse our principles for calculating the mixture classification.
Browse our principles for calculating the review standing. This column also features a connection to the submitter’s assertion requirements if delivered, and the gathering technique.
The distributing Corporation for this submitted (SCV) history. This column also contains the SCV accession and Variation amount, the day this SCV initially appeared in ClinVar, and the date that this SCV was final updated in ClinVar.
These citations are identified by LitVar using the rs number, so They might include citations for multiple variant at this spot. Please critique the LitVar benefits cautiously on your variant of fascination. File past up-to-date May possibly 19, 2024
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Stars characterize the mixture critique standing, or the level of critique supporting the aggregate germline classification for this VCV file.
The quantity of variants in ClinVar for this gene, which include lesser variants throughout the gene and larger CNVs that overlap or completely incorporate the gene.
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Stars depict the overview status, or the extent of review supporting the submitted (SCV) record. This value is calculated by NCBI according to data within the submitter.