ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.522-13del

dbSNP: rs140638516
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704622 SCV000570142 likely benign not provided 2021-04-13 criteria provided, single submitter clinical testing
Invitae RCV002063757 SCV002469872 benign ALG9 congenital disorder of glycosylation 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704622 SCV003917256 benign not provided 2023-03-01 criteria provided, single submitter clinical testing ATP6V0A2: BS1, BS2

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