ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.2793T>A (p.Ala931=)

gnomAD frequency: 0.00001  dbSNP: rs367759326
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001448709 SCV001651808 likely benign Non-ketotic hyperglycinemia 2021-09-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000865448 SCV002498015 likely benign not provided 2022-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001448709 SCV002075714 likely benign Non-ketotic hyperglycinemia 2020-08-12 no assertion criteria provided clinical testing

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