Submissions for variant NM_005271.5(GLUD1):c.1060-10T>A

gnomAD frequency: 0.03225  dbSNP: rs17096421

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117151	SCV000151314	benign	not specified	2013-03-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000117151	SCV000310996	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000361379	SCV000365700	benign	Hyperinsulinism-hyperammonemia syndrome	2018-01-13	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc	RCV000711806	SCV000842209	benign	not provided	2017-11-20	criteria provided, single submitter	clinical testing
Invitae	RCV000361379	SCV001726352	benign	Hyperinsulinism-hyperammonemia syndrome	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000711806	SCV001856655	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing