Submissions for variant NM_017617.5(NOTCH1):c.5019-13_5019-10del

dbSNP: rs374419074

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000468475	SCV000559887	benign	Adams-Oliver syndrome 5	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000604130	SCV000714902	benign	not specified	2017-07-28	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	RCV001171099	SCV001333777	benign	Familial thoracic aortic aneurysm and aortic dissection	2019-03-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000468475	SCV002554344	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270524	SCV002554345	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000604130	SCV004029567	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing