ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.46G>A (p.Ala16Thr)

gnomAD frequency: 0.00091  dbSNP: rs150145390
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124680 SCV000168114 benign not specified 2013-12-31 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 RCV000904667 SCV001049198 benign Pyruvate dehydrogenase E2 deficiency 2024-01-07 criteria provided, single submitter clinical testing

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