Submissions for variant NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile)

gnomAD frequency: 0.00898  dbSNP: rs2229968

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000233898	SCV000290281	likely benign	Adams-Oliver syndrome 5	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000121690	SCV000731088	benign	not specified	2017-05-04	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	RCV000769596	SCV000738393	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-08-11	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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	RCV000769596	SCV000900993	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-11-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000233898	SCV002554356	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269861	SCV002554357	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492435	SCV002798802	benign	Aortic valve disease 1; Adams-Oliver syndrome 5	2021-07-02	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000121690	SCV004029573	likely benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003430679	SCV004162009	benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	NOTCH1: PP2, BP4, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003430679	SCV004563088	likely benign	not provided	2023-11-06	criteria provided, single submitter	clinical testing
ITMI	RCV000121690	SCV000085888	not provided	not specified	2013-09-19	no assertion provided	reference population
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000121690	SCV001807433	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000121690	SCV001928989	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000121690	SCV001964547	benign	not specified		no assertion criteria provided	clinical testing