ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) (rs111033192)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036204 SCV000059856 uncertain significance not specified 2008-03-01 criteria provided, single submitter clinical testing
Counsyl RCV000671433 SCV000796409 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-12-14 criteria provided, single submitter clinical testing
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV001095699 SCV001251512 uncertain significance MYO7A-Related Disorders criteria provided, single submitter research MYO7A c.5824G>A (p.G1942R) missense variant has been reported in one family with autosomal recessive nonsyndromic deafness (PMID: 21117948). This variant has also been reported in the compound heterozygous state in one individual with Usher syndrome (PMID: 27460420).

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