ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.2315+2T>G

dbSNP: rs1554643738
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001782198 SCV002018467 likely pathogenic Glycine encephalopathy 2021-10-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001782198 SCV002238346 pathogenic Glycine encephalopathy 2021-07-13 criteria provided, single submitter clinical testing

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