ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.1149A>G (p.Thr383=)

gnomAD frequency: 0.00005  dbSNP: rs146499591
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 RCV000871667 SCV001013355 likely benign Glycine encephalopathy 2024-09-12 criteria provided, single submitter clinical testing
GeneDx RCV001568806 SCV001792740 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing

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