ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.511-54G>A

gnomAD frequency: 0.00184  dbSNP: rs181933291
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001568163 SCV001791987 likely benign not provided 2019-04-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836451 SCV002076927 likely benign Pyruvate dehydrogenase complex deficiency 2019-10-22 no assertion criteria provided clinical testing

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