ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.2181C>T (p.Asp727=)

gnomAD frequency: 0.00005  dbSNP: rs192045547
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001477664 SCV001681910 likely benign Glycine encephalopathy 2024-11-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003399250 SCV004121711 likely benign not specified 2023-10-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004809634 SCV005433606 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing GLDC: BP4, BP7

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