ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.759+10C>G

gnomAD frequency: 0.00005  dbSNP: rs375488072
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000897720 SCV001041881 benign Pyruvate dehydrogenase E1-alpha deficiency 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825807 SCV002076930 likely benign Pyruvate dehydrogenase complex deficiency 2020-02-03 no assertion criteria provided clinical testing

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