ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.970G>T (p.Ala324Ser)

gnomAD frequency: 0.00019  dbSNP: rs376348438
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243239 SCV001416384 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001243239 SCV001985622 uncertain significance not provided 2020-01-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein 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

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