ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.519G>A (p.Gln173=)

gnomAD frequency: 0.00008  dbSNP: rs369757929
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000938258 SCV001084063 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913174 SCV004735126 likely benign MYO7A-related condition 2020-07-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001274689 SCV001459056 uncertain significance Usher syndrome type 1B 2020-01-24 no assertion criteria provided clinical testing

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