Submissions for variant NM_017617.5(NOTCH1):c.1670-19C>T

gnomAD frequency: 0.00012  dbSNP: rs377686947

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000602010	SCV000732467	likely benign	not specified	2017-06-09	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002066869	SCV002434678	likely benign	Adams-Oliver syndrome 5	2024-10-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002066869	SCV002555045	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270866	SCV002555046	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000602010	SCV005422059	benign	not specified	2024-10-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001580069	SCV005875590	likely benign	not provided	2024-06-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001580069	SCV001809556	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001580069	SCV001930121	likely benign	not provided		no assertion criteria provided	clinical testing