ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter)

gnomAD frequency: 0.00001  dbSNP: rs782694195
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671459 SCV000796435 pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-12-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499178 SCV002811601 pathogenic Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2024-04-11 criteria provided, single submitter clinical testing

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