Submissions for variant NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr)

gnomAD frequency: 0.00557  dbSNP: rs111309246

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000230734	SCV000290303	benign	Adams-Oliver syndrome 5	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000769580	SCV000320183	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-09-22	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.
GeneDx	RCV000121707	SCV000715028	benign	not specified	2017-01-18	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769580	SCV000900977	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-09-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000230734	SCV002553801	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269867	SCV002553804	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000121707	SCV004029508	likely benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
ITMI	RCV000121707	SCV000085905	not provided	not specified	2013-09-19	no assertion provided	reference population
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000121707	SCV001808901	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000121707	SCV001970126	benign	not specified		no assertion criteria provided	clinical testing