Submissions for variant NM_000214.3(JAG1):c.440-15T>C

gnomAD frequency: 0.42936  dbSNP: rs2273060

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000196823	SCV000303033	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000362940	SCV000432946	benign	Isolated Nonsyndromic Congenital Heart Disease	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520997	SCV001730244	benign	Alagille syndrome due to a JAG1 point mutation	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730584	SCV001980837	benign	Deafness, congenital heart defects, and posterior embryotoxon	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001520997	SCV001980838	benign	Alagille syndrome due to a JAG1 point mutation	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730583	SCV001980839	benign	Tetralogy of Fallot	2021-08-19	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000196823	SCV003928849	benign	not specified	2023-04-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004717082	SCV005312351	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000196823	SCV001925534	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000196823	SCV001951944	benign	not specified		no assertion criteria provided	clinical testing