Little Known Facts About thr777.

The impact from the variant on RNA or protein function, depending on experimental proof from submitters.

This price is calculated by NCBI depending on information from submitters. Read our procedures for calculating the critique status. The volume of submissions which lead to this review standing is shown in parentheses.

This date represents the last time this VCV file was up-to-date. The update may be resulting from an update to one of the incorporated submitted data (SCVs), or resulting from an update that ClinVar built towards the variant including including HGVS expressions or possibly a rs range.

The global small allele frequency calculated from the a thousand Genomes Job. The minimal allele at this spot is indicated in parentheses and will be different within the allele represented by this VCV report.

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The mixture germline classification for this variant, commonly for just a monogenic or Mendelian disorder as inside the ACMG/AMP pointers, or for response to the drug. This value is calculated by NCBI based upon knowledge from submitters. Read through our regulations for calculating the combination classification.

Examine our regulations for calculating the critique standing. This column thr777 also includes a connection to your submitter’s assertion standards if offered, and the collection technique.

The submitting Group for this submitted (SCV) document. This column also features the SCV accession and Model number, the day this SCV first appeared in ClinVar, plus the date that this SCV was previous updated in ClinVar.

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Stars symbolize the aggregate assessment status, or the extent of assessment supporting the mixture germline classification for this VCV record.

The quantity of variants in ClinVar for this gene, like lesser variants throughout the gene and larger CNVs that overlap or completely have the gene.

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