ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.97-5G>A

gnomAD frequency: 0.00026  dbSNP: rs200429396
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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 RCV000904694 SCV001049229 likely benign Pyruvate dehydrogenase E1-beta deficiency 2024-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277696 SCV001464662 uncertain significance Pyruvate dehydrogenase complex deficiency 2020-09-04 no assertion criteria provided clinical testing

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