Submissions for variant NM_017617.5(NOTCH1):c.2740+12C>T

gnomAD frequency: 0.11457  dbSNP: rs36119806

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000272824	SCV000339460	benign	not specified	2016-02-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000272824	SCV000525646	benign	not specified	2016-09-27	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	RCV001510930	SCV001718087	benign	Adams-Oliver syndrome 5	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001510930	SCV002026850	benign	Adams-Oliver syndrome 5	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001785545	SCV002026851	benign	Aortic valve disease 1	2021-09-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000272824	SCV003928459	benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000272824	SCV001809392	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000272824	SCV001924075	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000272824	SCV001955817	benign	not specified		no assertion criteria provided	clinical testing