ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.899+12G>A

gnomAD frequency: 0.00036  dbSNP: rs376730441
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127401 SCV000170964 benign not specified 2013-01-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055743 SCV002405345 benign Pyruvate dehydrogenase E1-alpha deficiency 2024-11-03 criteria provided, single submitter clinical testing

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