ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3745C>T (p.Leu1249=)

gnomAD frequency: 0.00003  dbSNP: rs569293775
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001425784 SCV001628422 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001425784 SCV001998175 uncertain significance not provided 2020-10-15 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004734184 SCV005365900 likely benign MYO7A-related disorder 2024-07-25 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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