Submissions for variant NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=)

gnomAD frequency: 0.00854  dbSNP: rs11574889

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000206348	SCV000261855	benign	Adams-Oliver syndrome 5	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000769606	SCV000319407	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-01-23	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.
GeneDx	RCV000434406	SCV000528006	benign	not specified	2016-10-14	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769606	SCV000901003	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-03-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000206348	SCV002555053	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270017	SCV002555055	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500659	SCV002809073	benign	Aortic valve disease 1; Adams-Oliver syndrome 5	2021-07-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000434406	SCV004029531	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003422112	SCV004162055	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4, BP7, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003422112	SCV004564629	benign	not provided	2024-10-28	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV003422112	SCV005323791	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000434406	SCV001800782	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000434406	SCV001807686	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000434406	SCV001921712	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000434406	SCV001959030	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000434406	SCV001964679	benign	not specified		no assertion criteria provided	clinical testing