ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.66G>C (p.Leu22=)

dbSNP: rs1337924090
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001391797 SCV001593428 likely benign Glycine encephalopathy 2023-11-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003433128 SCV004161872 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing GLDC: BP4, BP7
Natera, Inc. RCV001391797 SCV002078210 likely benign Glycine encephalopathy 2021-08-18 no assertion criteria provided clinical testing

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