Submissions for variant NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser)

gnomAD frequency: 0.00007  dbSNP: rs376422513

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000438766	SCV000535286	uncertain significance	not provided	2022-03-22	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Invitae	RCV001861639	SCV002169373	benign	Adams-Oliver syndrome 5	2023-10-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001861639	SCV002553294	uncertain significance	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270478	SCV002553295	uncertain significance	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002374721	SCV002667549	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2021-11-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV002374721	SCV003838459	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2021-11-24	criteria provided, single submitter	clinical testing