Submissions for variant NM_017617.5(NOTCH1):c.4296C>T (p.Phe1432=)

gnomAD frequency: 0.00009  dbSNP: rs774697636

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000869251	SCV000719208	likely benign	not provided	2018-09-21	criteria provided, single submitter	clinical testing
Invitae	RCV001493389	SCV001698014	likely benign	Adams-Oliver syndrome 5	2023-11-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001493389	SCV002554420	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270772	SCV002554421	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002331043	SCV002626695	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-05-30	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	RCV000869251	SCV004162022	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4, BP7