Submissions for variant NM_017617.5(NOTCH1):c.1407C>T (p.Asp469=)

gnomAD frequency: 0.00001  dbSNP: rs1405995623

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000828379	SCV000970065	likely benign	not provided	2018-06-06	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	RCV002067482	SCV002440454	likely benign	Adams-Oliver syndrome 5	2023-12-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002067482	SCV002555071	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002271061	SCV002555072	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000828379	SCV001807423	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000828379	SCV001953332	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000828379	SCV001971031	likely benign	not provided		no assertion criteria provided	clinical testing