Submissions for variant NM_017617.5(NOTCH1):c.5168-10G>A

gnomAD frequency: 0.00645  dbSNP: rs199903655

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176887	SCV000228645	benign	not specified	2015-05-22	criteria provided, single submitter	clinical testing
Invitae	RCV000234280	SCV000290284	benign	Adams-Oliver syndrome 5	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000176887	SCV000528017	benign	not specified	2016-12-19	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769594	SCV000900991	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-11-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000234280	SCV002554320	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269953	SCV002554321	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000176887	SCV004029579	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004539645	SCV004788447	benign	NOTCH1-related disorder	2020-08-28	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).