Submissions for variant NM_017617.5(NOTCH1):c.3644-4G>A

gnomAD frequency: 0.00040  dbSNP: rs376161552

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000231657	SCV000290266	likely benign	Adams-Oliver syndrome 5	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001580003	SCV000532655	likely benign	not provided	2021-07-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26582918)
Ambry Genetics	RCV002313950	SCV000739374	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-05-21	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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000660158	SCV000782152	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000231657	SCV002554478	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270044	SCV002554479	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV002313950	SCV003838464	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2021-11-02	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330599	SCV004039374	benign	not specified	2023-08-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001580003	SCV004162033	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4
PreventionGenetics, part of Exact Sciences	RCV004541443	SCV004774502	likely benign	NOTCH1-related disorder	2019-04-17	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001580003	SCV001809321	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001580003	SCV001927738	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001580003	SCV001952541	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001580003	SCV001969667	likely benign	not provided		no assertion criteria provided	clinical testing