ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.1201G>A (p.Val401Ile)

gnomAD frequency: 0.00003  dbSNP: rs369581570
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001901743 SCV002174750 likely benign not provided 2022-06-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490223 SCV002780907 uncertain significance Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 2024-05-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538603 SCV004115281 uncertain significance MYH9-related disorder 2023-08-01 criteria provided, single submitter clinical testing The MYH9 c.1201G>A variant is predicted to result in the amino acid substitution p.Val401Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-36714278-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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