Submissions for variant NM_017617.5(NOTCH1):c.5019-6G>A

gnomAD frequency: 0.00009  dbSNP: rs978561896

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000442898	SCV000533626	likely benign	not specified	2017-11-14	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	RCV000472071	SCV000559933	likely benign	Adams-Oliver syndrome 5	2024-01-29	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798813	SCV002043530	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-05-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000472071	SCV002554342	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270449	SCV002554343	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003736771	SCV004563065	likely benign	not provided	2023-03-21	criteria provided, single submitter	clinical testing