ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.606G>A (p.Ser202=)

gnomAD frequency: 0.00006  dbSNP: rs148153443
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001653160 SCV001871365 likely benign not provided 2021-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073056 SCV002358357 likely benign Pyruvate dehydrogenase E2 deficiency 2023-07-18 criteria provided, single submitter clinical testing

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