ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.45G>A (p.Gly15=)

gnomAD frequency: 0.00045  dbSNP: rs577986419
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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 RCV001476849 SCV001681066 likely benign Glycine encephalopathy 2024-05-29 criteria provided, single submitter clinical testing
GeneDx RCV001581154 SCV001810970 likely benign not provided 2019-11-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001476849 SCV002078212 likely benign Glycine encephalopathy 2019-12-12 no assertion criteria provided clinical testing

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