ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.381+12_381+13insG

gnomAD frequency: 0.00014  dbSNP: rs781916881
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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 RCV002146400 SCV002468130 likely benign Pyruvate dehydrogenase E2 deficiency 2022-06-05 criteria provided, single submitter clinical testing

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