ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=) (rs146156426)

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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 RCV000317767 SCV000339407 uncertain significance not provided 2016-02-11 criteria provided, single submitter clinical testing
Invitae RCV000317767 SCV001019686 likely benign not provided 2018-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000317767 SCV001780172 likely benign not provided 2020-06-05 criteria provided, single submitter clinical testing

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