Submissions for variant NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg)

dbSNP: rs116317506

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000470160	SCV000559893	benign	Adams-Oliver syndrome 5	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000121699	SCV000714894	benign	not specified	2017-01-23	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.
Ambry Genetics	RCV000769587	SCV000738380	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-01-07	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769587	SCV000900984	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-08-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000470160	SCV002553855	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269865	SCV002553856	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000121699	SCV004029557	likely benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
ITMI	RCV000121699	SCV000085897	not provided	not specified	2013-09-19	no assertion provided	reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000121699	SCV001800371	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000121699	SCV001806917	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000121699	SCV001964856	benign	not specified		no assertion criteria provided	clinical testing