ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.2244G>A (p.Ser748=)

gnomAD frequency: 0.00019  dbSNP: rs372693840
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000545642 SCV000636378 likely benign Glycine encephalopathy 2024-11-07 criteria provided, single submitter clinical testing
GeneDx RCV001576559 SCV001803771 likely benign not provided 2021-06-17 criteria provided, single submitter clinical testing

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