ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.292-59C>T

gnomAD frequency: 0.00238  dbSNP: rs186854596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001587135 SCV001820802 likely benign not provided 2020-10-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827531 SCV002076924 likely benign Pyruvate dehydrogenase complex deficiency 2019-10-24 no assertion criteria provided clinical testing

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