Submissions for variant NM_017617.5(NOTCH1):c.6082+10C>T

gnomAD frequency: 0.00019  dbSNP: rs114120958

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000607877	SCV000717346	likely benign	not specified	2017-03-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV001445204	SCV001648226	likely benign	Adams-Oliver syndrome 5	2024-01-16	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798918	SCV002043539	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-03-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001445204	SCV002554235	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270749	SCV002554236	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003945478	SCV004759700	likely benign	NOTCH1-related condition	2023-12-22	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).