ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.240G>A (p.Ser80=)

gnomAD frequency: 0.00001  dbSNP: rs587735788
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609491 SCV000716164 likely benign not specified 2017-02-28 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 RCV002062962 SCV002364480 likely benign Pyruvate dehydrogenase E2 deficiency 2020-11-14 criteria provided, single submitter clinical testing

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