Submissions for variant NM_017617.5(NOTCH1):c.1555+10A>G

gnomAD frequency: 0.47945  dbSNP: rs11145767

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000283888	SCV000339512	benign	not specified	2016-02-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000283888	SCV000524330	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	RCV001514268	SCV001722068	benign	Adams-Oliver syndrome 5	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001514268	SCV002026861	benign	Adams-Oliver syndrome 5	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000616716	SCV002026862	benign	Aortic valve disease 1	2021-09-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000283888	SCV003928457	benign	not specified	2023-04-04	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000616716	SCV000734682	likely benign	Aortic valve disease 1		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000283888	SCV001809595	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000283888	SCV001924333	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000283888	SCV001956399	benign	not specified		no assertion criteria provided	clinical testing