Submissions for variant NM_017617.5(NOTCH1):c.2970-20G>A

gnomAD frequency: 0.00116  dbSNP: rs367927174

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000441751	SCV000533932	likely benign	not specified	2017-12-29	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	RCV002060021	SCV002406291	benign	Adams-Oliver syndrome 5	2024-01-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002060021	SCV002554553	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270456	SCV002554554	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000441751	SCV004029514	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000441751	SCV001808611	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724002	SCV001954354	likely benign	not provided		no assertion criteria provided	clinical testing