ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.2793T>A (p.Ala931=)

gnomAD frequency: 0.00001  dbSNP: rs367759326
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001448709 SCV001651808 likely benign Glycine encephalopathy 2023-11-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000865448 SCV002498015 likely benign not provided 2022-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000865448 SCV005225329 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001448709 SCV002075714 likely benign Glycine encephalopathy 2020-08-12 no assertion criteria provided clinical testing

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