Submissions for variant NM_017617.5(NOTCH1):c.3511-10G>A

gnomAD frequency: 0.00134  dbSNP: rs139838537

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000418093	SCV000530572	benign	not specified	2017-11-15	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	RCV000468796	SCV000559924	benign	Adams-Oliver syndrome 5	2024-01-31	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770633	SCV000902084	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-08-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000468796	SCV002554493	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270399	SCV002554495	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000418093	SCV004029180	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003422410	SCV004162034	benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	NOTCH1: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003422410	SCV004564797	benign	not provided	2023-04-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV003422410	SCV005323758	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000418093	SCV001808364	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000418093	SCV001959436	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000418093	SCV001965760	benign	not specified		no assertion criteria provided	clinical testing