Submissions for variant NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His)

gnomAD frequency: 0.00110  dbSNP: rs201768800

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000234132	SCV000290241	likely benign	Adams-Oliver syndrome 5	2024-01-22	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000597266	SCV000709225	likely benign	not specified	2017-06-12	criteria provided, single submitter	clinical testing
GeneDx	RCV001705280	SCV000729299	likely benign	not provided	2021-01-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000234132	SCV002555064	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270031	SCV002555066	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002392713	SCV002705019	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-08-24	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.
PreventionGenetics, part of Exact Sciences	RCV004532947	SCV004725804	likely benign	NOTCH1-related disorder	2019-07-31	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).