ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.853A>C (p.Arg285=)

gnomAD frequency: 0.00001  dbSNP: rs776563027
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719039 SCV000727362 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing
Invitae RCV002531635 SCV003010871 likely benign ALG9 congenital disorder of glycosylation 2023-08-04 criteria provided, single submitter clinical testing

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