Submissions for variant NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser)

gnomAD frequency: 0.00587  dbSNP: rs114832250

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000232532	SCV000290298	likely benign	Adams-Oliver syndrome 5	2024-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000769618	SCV000319814	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-07-07	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.
GeneDx	RCV000121673	SCV000528020	benign	not specified	2016-12-15	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	RCV000769618	SCV000901015	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-11-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000232532	SCV002555178	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269851	SCV002555179	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000121673	SCV004029504	likely benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573152	SCV004563033	likely benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004542905	SCV004793711	benign	NOTCH1-related disorder	2020-04-17	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI	RCV000121673	SCV000085871	not provided	not specified	2013-09-19	no assertion provided	reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573152	SCV001798577	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001573152	SCV001808280	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000121673	SCV001970661	benign	not specified		no assertion criteria provided	clinical testing