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

gnomAD frequency: 0.01480  dbSNP: rs73668310

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000406847	SCV000331590	benign	not specified	2016-02-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000406847	SCV000529324	benign	not specified	2016-10-11	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	RCV000770359	SCV000901800	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-04-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270202	SCV002553746	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270201	SCV002553748	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000406847	SCV003933959	benign	not specified	2023-05-10	criteria provided, single submitter	clinical testing