ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.258C>T (p.Ser86=)

gnomAD frequency: 0.00006  dbSNP: rs562000292
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000902814 SCV001047250 likely benign Non-ketotic hyperglycinemia 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001311344 SCV001501491 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing GLDC: BP4, BP7
GeneDx RCV001311344 SCV001790130 likely benign not provided 2019-05-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000902814 SCV001452737 uncertain significance Non-ketotic hyperglycinemia 2020-01-24 no assertion criteria provided clinical testing

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