ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6546C>T (p.Cys2182=)

gnomAD frequency: 0.00022  dbSNP: rs185748200
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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 RCV000879306 SCV001022328 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing
GeneDx RCV000879306 SCV001815229 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Natera, Inc. RCV001274813 SCV001459304 uncertain significance Usher syndrome type 1B 2020-04-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004541774 SCV004781265 likely benign MYO7A-related disorder 2020-04-20 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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