ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.193G>A (p.Val65Met)

gnomAD frequency: 0.00003  dbSNP: rs377348805
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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, Mass General Brigham Personalized Medicine RCV000610555 SCV000711123 uncertain significance not specified 2016-06-20 criteria provided, single submitter clinical testing The p.Val65Met variant in MYH9 has been previously reported in 1 individual with hearing loss (Vona 2014), but it has also been identified in 19/66730 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs377348805). Computational prediction tools and conservation analy ses suggest that this variant may not impact the protein, though this informatio n is not predictive enough to rule out pathogenicity. In summary, the clinical s ignificance of the p.Val65Met variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV000765636 SCV000896964 uncertain significance Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV002531128 SCV003483427 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing

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