Submissions for variant NM_017617.5(NOTCH1):c.1903+10C>G

gnomAD frequency: 0.00004  dbSNP: rs375704312

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000541895	SCV000659382	likely benign	Adams-Oliver syndrome 5	2024-12-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000612528	SCV000723896	likely benign	not specified	2017-10-23	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	RCV000541895	SCV002555020	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270676	SCV002555022	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150275	SCV003838469	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2021-10-13	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000612528	SCV004029563	uncertain significance	not specified	2023-07-21	criteria provided, single submitter	clinical testing