ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.1851-9C>G

gnomAD frequency: 0.00013  dbSNP: rs377751310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878923 SCV001021915 likely benign Glycine encephalopathy 2024-11-18 criteria provided, single submitter clinical testing
GeneDx RCV001556099 SCV001777617 uncertain significance not provided 2022-04-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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