ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.2203-19G>A

gnomAD frequency: 0.01223  dbSNP: rs13440229
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514443 SCV000609727 likely benign not provided 2017-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001516283 SCV001724545 benign Glycine encephalopathy 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000514443 SCV001768696 likely benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001516283 SCV002811395 likely benign Glycine encephalopathy 2021-10-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000514443 SCV005225338 likely benign not provided criteria provided, single submitter not provided

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