ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.1678-7C>T

gnomAD frequency: 0.00003  dbSNP: rs781917992
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002183060 SCV002425128 likely benign Pyruvate dehydrogenase E2 deficiency 2023-05-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003903450 SCV004726494 likely benign DLAT-related disorder 2019-08-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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