ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2316A>G (p.Thr772=)

gnomAD frequency: 0.00009  dbSNP: rs369466539
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827225 SCV000968854 likely benign not provided 2018-05-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000827225 SCV001105228 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825689 SCV002086609 likely benign Usher syndrome type 1B 2019-11-11 no assertion criteria provided clinical testing

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