Submissions for variant NM_017617.5(NOTCH1):c.62-8C>T

gnomAD frequency: 0.00401  dbSNP: rs202023246

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000227116	SCV000290296	benign	Adams-Oliver syndrome 5	2024-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000430700	SCV000535199	benign	not specified	2017-08-22	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.
Genome-Nilou Lab	RCV000227116	SCV002555180	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270057	SCV002555181	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000430700	SCV004029574	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003485567	SCV004239537	benign	Familial thoracic aortic aneurysm and aortic dissection	2022-11-17	criteria provided, single submitter	clinical testing