ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.826A>T (p.Thr276Ser)

gnomAD frequency: 0.00175  dbSNP: rs148873419
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185857 SCV000238808 likely benign not provided 2021-02-26 criteria provided, single submitter clinical testing
Invitae RCV001086452 SCV001035246 likely benign Pyruvate dehydrogenase E3 deficiency 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001086452 SCV002799042 likely benign Pyruvate dehydrogenase E3 deficiency 2022-05-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947560 SCV004761450 likely benign DLD-related condition 2021-06-14 criteria provided, single submitter 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).
Natera, Inc. RCV001086452 SCV001463996 benign Pyruvate dehydrogenase E3 deficiency 2019-10-28 no assertion criteria provided clinical testing

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