Submissions for variant NM_017617.5(NOTCH1):c.2207+10G>A

gnomAD frequency: 0.00343  dbSNP: rs191892426

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000228731	SCV000290248	benign	Adams-Oliver syndrome 5	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000426893	SCV000527985	benign	not provided	2020-04-17	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170162	SCV001332712	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-11-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000228731	SCV002554975	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270035	SCV002554977	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001579649	SCV004029559	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000426893	SCV004032905	benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	NOTCH1: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000426893	SCV004564077	benign	not provided	2023-08-14	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579649	SCV001808022	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000426893	SCV001956380	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000426893	SCV001974579	likely benign	not provided		no assertion criteria provided	clinical testing