ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.1161C>T (p.Leu387=)

gnomAD frequency: 0.00002  dbSNP: rs781613958
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002052357 SCV002319100 likely benign not provided 2021-04-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077356 SCV002365232 likely benign Glycine encephalopathy 2024-12-10 criteria provided, single submitter clinical testing

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