Submissions for variant NM_017617.5(NOTCH1):c.312T>C (p.Asn104=)

gnomAD frequency: 0.62688  dbSNP: rs4489420

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000367819	SCV000339459	benign	not specified	2016-02-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000367819	SCV000518321	benign	not specified	2015-11-18	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.
Ambry Genetics	RCV002314019	SCV000738282	benign	Familial thoracic aortic aneurysm and aortic dissection	2014-12-30	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Invitae	RCV001519886	SCV001728846	benign	Adams-Oliver syndrome 5	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001519886	SCV002026868	benign	Adams-Oliver syndrome 5	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000615067	SCV002026869	benign	Aortic valve disease 1	2021-09-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000367819	SCV003928445	benign	not specified	2023-04-04	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000615067	SCV000734685	likely benign	Aortic valve disease 1		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000367819	SCV001809118	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000367819	SCV001924698	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000367819	SCV001952279	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000367819	SCV001968487	benign	not specified		no assertion criteria provided	clinical testing