Submissions for variant NM_017617.5(NOTCH1):c.7390C>T (p.Leu2464=)

gnomAD frequency: 0.00045  dbSNP: rs372760677

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000226495	SCV000290310	benign	Adams-Oliver syndrome 5	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001697590	SCV000533331	likely benign	not provided	2021-06-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313957	SCV000738399	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-08-21	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.
Genome-Nilou Lab	RCV000226495	SCV002553766	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270064	SCV002553767	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001697590	SCV004161991	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4, BS1