Submissions for variant NM_017617.5(NOTCH1):c.975C>T (p.Asn325=)

gnomAD frequency: 0.00006  dbSNP: rs746111102

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000655276	SCV000777206	likely benign	Adams-Oliver syndrome 5	2022-09-19	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680597	SCV000808025	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000655276	SCV002555100	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270946	SCV002555101	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002386125	SCV002695412	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-03-19	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.
CeGaT Center for Human Genetics Tuebingen	RCV003424260	SCV004162060	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4, BP7