Submissions for variant NM_000170.3(GLDC):c.498T>C (p.Pro166=)

gnomAD frequency: 0.00110  dbSNP: rs150193069

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245433	SCV000302846	likely benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083509	SCV000636406	benign	Non-ketotic hyperglycinemia	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711820	SCV000842225	benign	not provided	2017-11-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001083509	SCV001330749	uncertain significance	Non-ketotic hyperglycinemia	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000711820	SCV001748284	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	GLDC: BP4, BP7
GeneDx	RCV000711820	SCV001779061	likely benign	not provided	2020-09-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27617160)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000245433	SCV002547881	likely benign	not specified	2022-05-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000711820	SCV001929522	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000711820	SCV001964818	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001083509	SCV002075808	likely benign	Non-ketotic hyperglycinemia	2019-12-16	no assertion criteria provided	clinical testing