Submissions for variant NM_000214.3(JAG1):c.2214A>C (p.Thr738=) (rs1801140)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	RCV000035328	SCV000058976	benign	not specified	2010-09-03	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000035328	SCV000303012	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000251451	SCV000318410	benign	Cardiovascular phenotype	2015-06-29	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina	RCV000372559	SCV000432909	benign	Arteriohepatic dysplasia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000287430	SCV000432910	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.