Submissions for variant NM_017617.5(NOTCH1):c.7232CAC[4] (p.Pro2415del)

dbSNP: rs762336270

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680579	SCV000807999	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002066997	SCV002377110	likely benign	Adams-Oliver syndrome 5	2023-08-24	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002066997	SCV002553782	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270959	SCV002553783	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150328	SCV003838455	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2021-07-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003150328	SCV005027376	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-11-30	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.