ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.190G>A (p.Ala64Thr)

dbSNP: rs141601131
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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 RCV000889398 SCV001033076 likely benign Glycine encephalopathy 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV001572559 SCV001797221 uncertain significance not provided 2024-02-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000889398 SCV001452739 likely benign Glycine encephalopathy 2019-11-11 no assertion criteria provided clinical testing

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