ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1568C>G (p.Ala523Gly)

dbSNP: rs776610122
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001270719 SCV001451464 uncertain significance Stickler syndrome type 2 2019-03-14 criteria provided, single submitter clinical testing The COL11A1 c.1604C>G (p.Ala535Gly) 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.Ala535Gly variant is classified as a variant of uncertain significance for Stickler syndrome.

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