ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=)

gnomAD frequency: 0.00001  dbSNP: rs397516329
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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 RCV000036231 SCV000059883 likely benign not specified 2010-03-03 criteria provided, single submitter clinical testing
Counsyl RCV000668733 SCV000793381 likely benign Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001465033 SCV001669015 likely benign not provided 2023-09-08 criteria provided, single submitter clinical testing

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