ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) (rs199879809)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000907000 SCV001051674 benign Pyruvate dehydrogenase E1-alpha deficiency 2020-11-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276607 SCV001463036 likely benign Pyruvate dehydrogenase complex deficiency 2020-06-09 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573190 SCV001798657 likely benign not provided no assertion criteria provided clinical testing

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