ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.2203-12C>T

gnomAD frequency: 0.00010  dbSNP: rs767258496
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001587188 SCV001820898 likely benign not provided 2021-03-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002070440 SCV002348425 likely benign Glycine encephalopathy 2024-07-11 criteria provided, single submitter clinical testing

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