Submissions for variant NM_017617.5(NOTCH1):c.1038C>T (p.His346=)

gnomAD frequency: 0.00033  dbSNP: rs376951155

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV001170172	SCV000320579	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-12-04	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.
Invitae	RCV000460083	SCV000559883	likely benign	Adams-Oliver syndrome 5	2023-11-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001697699	SCV000723238	likely benign	not provided	2021-05-20	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170172	SCV001332722	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-11-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000460083	SCV002555097	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270194	SCV002555099	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing