ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3507C>T (p.Asp1169=)

gnomAD frequency: 0.00007  dbSNP: rs782788403
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000918754 SCV001064074 likely benign not provided 2023-11-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933083 SCV004755268 likely benign MYO7A-related condition 2019-07-22 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. RCV001279790 SCV001466920 uncertain significance Usher syndrome type 1B 2020-07-30 no assertion criteria provided clinical testing

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