ClinVar Miner

Submissions for variant NM_004046.6(ATP5F1A):c.112G>A (p.Ala38Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002579438 SCV003491238 likely benign not provided 2024-10-15 criteria provided, single submitter clinical testing
GeneDx RCV002579438 SCV005333506 uncertain significance not provided 2024-01-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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