ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.252C>T (p.Arg84=)

gnomAD frequency: 0.00001  dbSNP: rs782672095
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002171519 SCV002477966 likely benign Pyruvate dehydrogenase E2 deficiency 2020-12-19 criteria provided, single submitter clinical testing

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