Submissions for variant NM_017617.5(NOTCH1):c.2640C>T (p.His880=)

gnomAD frequency: 0.00006  dbSNP: rs374946182

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000465703	SCV000559898	likely benign	Adams-Oliver syndrome 5	2023-08-10	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000660153	SCV000782147	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000465703	SCV002554923	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270527	SCV002554924	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002455879	SCV002740037	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-04-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV002455879	SCV003838466	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2021-06-11	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003401502	SCV004121918	benign	not specified	2023-10-19	criteria provided, single submitter	clinical testing