Submissions for variant NM_017617.5(NOTCH1):c.432C>T (p.Cys144=)

gnomAD frequency: 0.00035  dbSNP: rs373713957

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000232818	SCV000290275	benign	Adams-Oliver syndrome 5	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000428430	SCV000535591	likely benign	not specified	2017-12-07	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	RCV001170712	SCV000739353	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-01-21	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170712	SCV001333313	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-10-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000232818	SCV002555142	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270045	SCV002555144	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000428430	SCV004803417	benign	not specified	2024-01-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573043	SCV004810484	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4, BP7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573043	SCV001798339	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001573043	SCV001807716	likely benign	not provided		no assertion criteria provided	clinical testing