ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.435= (p.Arg145=)

gnomAD frequency: 0.01648  dbSNP: rs1438518070
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127406 SCV000170969 benign not specified 2012-11-06 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 RCV000649338 SCV000771165 benign Pyruvate dehydrogenase E1-beta deficiency 2024-01-31 criteria provided, single submitter clinical testing

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