Submissions for variant NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=)

gnomAD frequency: 0.00073  dbSNP: rs61751554

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002311094	SCV000319916	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-07-28	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.
Invitae	RCV000458260	SCV000559937	benign	Adams-Oliver syndrome 5	2024-01-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001697630	SCV000718181	likely benign	not provided	2021-02-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000458260	SCV002555004	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270172	SCV002555005	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003323481	SCV004029566	benign	not specified	2023-07-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001697630	SCV004162050	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4, BP7