Detailed Notes on thr777

Detailed Notes on thr777

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The outcome with the variant on RNA or protein purpose, dependant on experimental proof from submitters.

This worth is calculated by NCBI based on details from submitters. Examine our policies for calculating the assessment status. The number of submissions which add to this overview status is demonstrated in parentheses.

This date represents the last time this VCV report was current. The update could be due to an update to one of many involved submitted documents (SCVs), or due to an update that ClinVar created on the variant for instance introducing HGVS expressions or a rs number.

The worldwide minimal allele frequency calculated because of the one thousand Genomes Venture. The minor allele at this locale is indicated in parentheses and should be diverse from your allele represented by this VCV record.

The condition for that classification, provided by the submitter for this submitted (SCV) report. This column also contains the afflicted status and allele origin of individuals noticed with this variant.

The mixture germline classification for this variant, ordinarily for your monogenic or Mendelian disorder as from the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI depending on knowledge from submitters. Examine our regulations for calculating the combination classification.

There isn't any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, you should take thr777 into consideration publishing that facts to ClinVar.

The publishing Firm for this submitted (SCV) record. This column also incorporates the SCV accession and Edition selection, the date this SCV to start with appeared in ClinVar, along with the day that this SCV was very last updated in ClinVar.

These citations are discovered by LitVar utilizing the rs variety, so they may consist of citations for more than one variant at this site. Make sure you critique the LitVar outcomes thoroughly for your variant of curiosity. Report last updated May possibly 19, 2024 

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

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