ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.292-5C>T (rs191666624)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719097 SCV000729438 likely benign not provided 2019-11-22 criteria provided, single submitter clinical testing
Invitae RCV000893425 SCV001037357 benign Pyruvate dehydrogenase E1-alpha deficiency 2020-11-05 criteria provided, single submitter clinical testing

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