ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.1399-13C>T

gnomAD frequency: 0.00014  dbSNP: rs374698306
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001581214 SCV001811863 likely benign not provided 2019-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072297 SCV002329336 likely benign Pyruvate dehydrogenase E2 deficiency 2023-05-08 criteria provided, single submitter clinical testing

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