ClinVar Miner

Submissions for variant NM_145691.4(ATPAF2):c.111C>T (p.Ala37=)

gnomAD frequency: 0.00048  dbSNP: rs34738009
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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 RCV000917818 SCV001063110 likely benign not provided 2023-08-17 criteria provided, single submitter clinical testing
GeneDx RCV000917818 SCV001874951 uncertain significance not provided 2024-10-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this variant does not alter splicing

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