ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.870C>T (p.His290=)

gnomAD frequency: 0.00008  dbSNP: rs761411007
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000980963 SCV001128924 benign Pyruvate dehydrogenase E1-alpha deficiency 2021-11-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276606 SCV001463035 uncertain significance Pyruvate dehydrogenase complex deficiency 2020-03-17 no assertion criteria provided clinical testing

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