Submissions for variant NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=)

gnomAD frequency: 0.00175  dbSNP: rs3812602

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000205291	SCV000262274	benign	Adams-Oliver syndrome 5	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000770635	SCV000319444	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-05-04	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.
GeneDx	RCV000612040	SCV000714164	benign	not specified	2017-03-30	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	RCV000770635	SCV000902086	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-10-16	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000205291	SCV002554518	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270020	SCV002554519	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001723781	SCV004563148	benign	not provided	2023-06-14	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000612040	SCV001809022	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723781	SCV001956689	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000612040	SCV001964801	benign	not specified		no assertion criteria provided	clinical testing