Submissions for variant NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=)

gnomAD frequency: 0.00053  dbSNP: rs369346436

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001698331	SCV000534750	benign	not provided	2018-09-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000460150	SCV000559900	benign	Adams-Oliver syndrome 5	2024-01-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313144	SCV000739376	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-01-21	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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000660150	SCV000782144	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000460150	SCV002554984	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270472	SCV002554985	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003323543	SCV004029179	benign	not specified	2023-07-30	criteria provided, single submitter	clinical testing