Submissions for variant NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=)

gnomAD frequency: 0.00398  dbSNP: rs61751488

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000227887	SCV000290302	benign	Adams-Oliver syndrome 5	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000769581	SCV000319612	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-05-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
GeneDx	RCV000435657	SCV000532861	benign	not specified	2016-10-27	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	RCV000769581	SCV000900978	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-06-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000227887	SCV002553811	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270060	SCV002553812	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000435657	SCV003928448	benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001727652	SCV004161993	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4, BP7, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001727652	SCV004564039	benign	not provided	2023-11-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003977681	SCV004798621	benign	NOTCH1-related condition	2019-04-30	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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000435657	SCV001809101	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000435657	SCV001958919	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727652	SCV001971779	likely benign	not provided		no assertion criteria provided	clinical testing