Submissions for variant NM_017617.5(NOTCH1):c.1441+7C>T

gnomAD frequency: 0.57467  dbSNP: rs9411208

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000429617	SCV000525644	benign	not specified	2016-09-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV001519884	SCV001728844	benign	Adams-Oliver syndrome 5	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001519884	SCV002026866	benign	Adams-Oliver syndrome 5	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000603198	SCV002026867	benign	Aortic valve disease 1	2021-09-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000429617	SCV003928444	benign	not specified	2023-04-04	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000603198	SCV000734683	benign	Aortic valve disease 1		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000429617	SCV001808199	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000429617	SCV001918485	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000429617	SCV001954405	benign	not specified		no assertion criteria provided	clinical testing