ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.2340C>T (p.Arg780=)

gnomAD frequency: 0.00011  dbSNP: rs201694504
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698098 SCV000726755 likely benign not provided 2021-03-25 criteria provided, single submitter clinical testing
Invitae RCV002064269 SCV002426080 benign ALG9 congenital disorder of glycosylation 2023-11-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001698098 SCV004698660 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing ATP6V0A2: BP4, BP7

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