ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.267+42G>A

gnomAD frequency: 0.30062  dbSNP: rs62259772
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001527498 SCV001738532 benign Pyruvate dehydrogenase E1-beta deficiency 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001712954 SCV001943536 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527498 SCV002029530 benign Pyruvate dehydrogenase E1-beta deficiency 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712954 SCV005302905 benign not provided criteria provided, single submitter not provided

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