Submissions for variant NM_017617.5(NOTCH1):c.6228C>T (p.Thr2076=)

gnomAD frequency: 0.00002  dbSNP: rs531156367

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002311112	SCV000320034	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-08-25	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.
Invitae	RCV001514004	SCV001721735	benign	Adams-Oliver syndrome 5	2022-06-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000864589	SCV001763774	likely benign	not provided	2019-02-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001514004	SCV002553879	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270174	SCV002553881	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004542950	SCV004777936	likely benign	NOTCH1-related disorder	2023-10-04	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).