ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2758C>G (p.Arg920Gly)

dbSNP: rs373089701
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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 RCV001095757 SCV001251600 uncertain significance Autosomal dominant nonsyndromic hearing loss 11 2020-01-07 criteria provided, single submitter clinical testing The MYO7A c.2758C>G (p.Arg920Gly) 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.Arg920Gly variant is classified as a variant of unknown significance for nonsyndromic hearing loss.

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