ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=) (rs142454880)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000399908 SCV000339411 uncertain significance not provided 2017-08-17 criteria provided, single submitter clinical testing
Invitae RCV001088720 SCV001019687 benign ALG9 congenital disorder of glycosylation 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000399908 SCV001796945 likely benign not provided 2020-09-22 no assertion criteria provided clinical testing

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