ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5005G>A (p.Val1669Ile)

gnomAD frequency: 0.00021  dbSNP: rs374655803
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000941085 SCV001086964 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000941085 SCV001811846 uncertain significance not provided 2020-07-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001272801 SCV001455167 uncertain significance Usher syndrome type 1B 2020-04-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004533607 SCV004745032 likely benign MYO7A-related disorder 2022-04-06 no assertion criteria provided 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).

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