Submissions for variant NM_017617.5(NOTCH1):c.2468-19G>A

gnomAD frequency: 0.01328  dbSNP: rs116515776

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000430662	SCV000532096	benign	not specified	2016-10-21	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	RCV002063475	SCV002378837	benign	Adams-Oliver syndrome 5	2024-01-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002063475	SCV002554947	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270428	SCV002554948	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002488956	SCV002799962	likely benign	Aortic valve disease 1; Adams-Oliver syndrome 5	2022-04-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000430662	SCV003933957	benign	not specified	2023-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003736770	SCV004562066	benign	not provided	2023-04-21	criteria provided, single submitter	clinical testing