ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.951C>G (p.Pro317=)

gnomAD frequency: 0.00004  dbSNP: rs778207997
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001413511 SCV001615628 likely benign Pyruvate dehydrogenase E3 deficiency 2023-11-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895442 SCV004716337 likely benign DLD-related disorder 2021-03-09 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).

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