ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.1704C>T (p.Leu568=)

dbSNP: rs919319637
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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 RCV001401328 SCV001603150 likely benign Glycine encephalopathy 2024-02-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426073 SCV004161865 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing GLDC: PM2:Supporting, BP4, BP7

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