ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1299C>T (p.Ile433=)

gnomAD frequency: 0.00001  dbSNP: rs782163200
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595803 SCV000707017 uncertain significance not provided 2017-03-30 criteria provided, single submitter clinical testing
Invitae RCV000595803 SCV001068878 benign not provided 2024-01-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829671 SCV002086573 likely benign Usher syndrome type 1B 2020-05-22 no assertion criteria provided clinical testing

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