Submissions for variant NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=)

gnomAD frequency: 0.00012  dbSNP: rs763584589

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000230010	SCV000290291	likely benign	Adams-Oliver syndrome 5	2024-01-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001697265	SCV000534762	likely benign	not provided	2019-11-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001171093	SCV000739405	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-02-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV001171093	SCV001333771	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-10-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000230010	SCV002554274	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270051	SCV002554275	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330600	SCV004039369	benign	not specified	2023-08-24	criteria provided, single submitter	clinical testing