ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.1483-6C>T

gnomAD frequency: 0.00003  dbSNP: rs1442788186
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 RCV000541659 SCV000636355 likely benign Glycine encephalopathy 2024-10-28 criteria provided, single submitter clinical testing
GeneDx RCV001566116 SCV001789589 likely benign not provided 2019-12-23 criteria provided, single submitter clinical testing

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