Submissions for variant NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=)

gnomAD frequency: 0.01000  dbSNP: rs3812596

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000357259	SCV000341483	benign	not specified	2016-04-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000357259	SCV000532586	benign	not specified	2017-01-03	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.
Invitae	RCV000461829	SCV000559912	benign	Adams-Oliver syndrome 5	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000769585	SCV000738400	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-09-22	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	RCV000769585	SCV000900982	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-01-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000461829	SCV002553840	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270209	SCV002553841	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003114452	SCV003799579	benign	not provided	2023-09-06	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000357259	SCV004029501	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000357259	SCV001808693	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000357259	SCV001954046	benign	not specified		no assertion criteria provided	clinical testing