Submissions for variant NM_017617.5(NOTCH1):c.3042G>A (p.Thr1014=)

gnomAD frequency: 0.00032  dbSNP: rs371532644

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001081076	SCV000659418	benign	Adams-Oliver syndrome 5	2023-12-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315046	SCV000739440	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-08-16	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.
GeneDx	RCV000831024	SCV000972763	likely benign	not provided	2020-07-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001081076	SCV002554544	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270689	SCV002554545	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004543258	SCV004787068	likely benign	NOTCH1-related disorder	2023-07-31	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).