Submissions for variant NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=)

gnomAD frequency: 0.00283  dbSNP: rs61751546

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000204866	SCV000261637	benign	Adams-Oliver syndrome 5	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000770636	SCV000319563	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-05-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV001705178	SCV000525686	likely benign	not provided	2021-07-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16729972, 25194568)
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000660156	SCV000782150	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770636	SCV000902087	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000204866	SCV002554520	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000602259	SCV002554521	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000420267	SCV004029537	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705178	SCV004162036	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4, BP7, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001705178	SCV004563069	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001705178	SCV005228688	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000602259	SCV000734677	likely benign	Aortic valve disease 1		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000420267	SCV001807640	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001705178	SCV001959076	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001705178	SCV001965599	likely benign	not provided		no assertion criteria provided	clinical testing