ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.-4C>T

gnomAD frequency: 0.00007  dbSNP: rs778465584
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001578705 SCV001805987 uncertain significance Pyruvate dehydrogenase E1-beta deficiency 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277698 SCV001464664 uncertain significance Pyruvate dehydrogenase complex deficiency 2020-10-16 no assertion criteria provided clinical testing

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