ClinVar Miner

Submissions for variant NM_001931.4(DLAT):c.381+22delT (rs5794771)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625085 SCV000743736 likely benign Pyruvate dehydrogenase E2 deficiency 2016-01-13 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625085 SCV000745135 benign Pyruvate dehydrogenase E2 deficiency 2017-06-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676204 SCV000801957 benign not provided 2016-02-15 no assertion criteria provided clinical testing

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