Submissions for variant NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=)

gnomAD frequency: 0.00334  dbSNP: rs116316039

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000228130	SCV000290285	benign	Adams-Oliver syndrome 5	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000420932	SCV000533352	benign	not specified	2016-11-18	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	RCV000769592	SCV000739388	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-01-04	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769592	SCV000900989	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-05-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000228130	SCV002554309	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270050	SCV002554310	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000420932	SCV004029553	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723824	SCV001959008	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000420932	SCV001973174	benign	not specified		no assertion criteria provided	clinical testing