Submissions for variant NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=)

gnomAD frequency: 0.00561  dbSNP: rs35980907

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000230290	SCV000290283	benign	Adams-Oliver syndrome 5	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000430521	SCV000525687	benign	not specified	2016-11-03	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	RCV000769595	SCV000738345	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-04-03	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	RCV000660171	SCV000782165	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769595	SCV000900992	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-01-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000230290	SCV002554326	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270049	SCV002554328	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500804	SCV002805005	benign	Aortic valve disease 1; Adams-Oliver syndrome 5	2021-07-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001723823	SCV004010899	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4, BP7, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000430521	SCV004029515	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000430521	SCV001808910	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723823	SCV001954630	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001723823	SCV001968986	likely benign	not provided		no assertion criteria provided	clinical testing