ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=)

dbSNP: rs139680786
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728258 SCV000855806 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing
Invitae RCV001078478 SCV001012413 likely benign ALG9 congenital disorder of glycosylation 2023-07-17 criteria provided, single submitter clinical testing
GeneDx RCV000728258 SCV001811120 likely benign not provided 2020-02-04 criteria provided, single submitter clinical testing

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