Submissions for variant NM_000170.3(GLDC):c.678C>T (p.His226=)

gnomAD frequency: 0.00338  dbSNP: rs12006003

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082087	SCV000636418	benign	Glycine encephalopathy	2025-02-04	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000539169	SCV001144071	benign	not provided	2018-11-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001082087	SCV001330748	likely benign	Glycine encephalopathy	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000539169	SCV001822903	likely benign	not provided	2021-10-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000539169	SCV002498016	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	GLDC: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000539169	SCV005225351	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000539169	SCV001928419	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000539169	SCV001972875	likely benign	not provided		no assertion criteria provided	clinical testing