ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.1677+8A>G

gnomAD frequency: 0.00054  dbSNP: rs201994231
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602801 SCV000723345 likely benign not specified 2017-10-16 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 RCV001471028 SCV001675130 likely benign Pyruvate dehydrogenase E2 deficiency 2023-12-05 criteria provided, single submitter clinical testing

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