ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.1893C>T (p.Ala631=)

dbSNP: rs565751857
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000887527 SCV001031085 likely benign Glycine encephalopathy 2025-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001585857 SCV001812196 likely benign not provided 2019-02-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955930 SCV004784895 likely benign GLDC-related disorder 2019-09-05 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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