Submissions for variant NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=)

gnomAD frequency: 0.00992  dbSNP: rs148331061

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000229094	SCV000290242	benign	Adams-Oliver syndrome 5	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000440854	SCV000532226	benign	not specified	2016-10-04	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	RCV000769605	SCV000738355	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-04-14	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769605	SCV000901002	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-04-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000229094	SCV002555049	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270032	SCV002555050	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500802	SCV002811907	likely benign	Aortic valve disease 1; Adams-Oliver syndrome 5	2021-07-19	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003114400	SCV003799284	benign	not provided	2023-10-26	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000440854	SCV004029513	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003114400	SCV004162054	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4, BP7, BS1, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000440854	SCV001807545	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000440854	SCV001965596	benign	not specified		no assertion criteria provided	clinical testing