ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.836A>T (p.Asp279Val)

dbSNP: rs1567762446
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701760 SCV000830575 uncertain significance Koolen-de Vries syndrome 2021-09-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000701760 SCV001251584 uncertain significance Koolen-de Vries syndrome 2020-02-19 criteria provided, single submitter clinical testing The KANSL1 3 c.836A>T (p.Asp279Val) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Asp279Val variant variant is classified as a variant of unknown significance for Koolen-De Vries syndrome.

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