Submissions for variant NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)

gnomAD frequency: 0.00171  dbSNP: rs183156491

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000121682	SCV000228255	likely benign	not specified	2015-03-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000988295	SCV000290272	likely benign	Adams-Oliver syndrome 5	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001171105	SCV000319511	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-02-12	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	RCV001573614	SCV000520856	likely benign	not provided	2021-03-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23578328, 26708639, 17662764, 21457232, 24728327, 28074886, 28387797, 18593716)
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000660161	SCV000782155	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000988295	SCV001137963	benign	Adams-Oliver syndrome 5	2019-05-28	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171105	SCV001333783	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-12-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000988295	SCV002554440	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269857	SCV002554441	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000121682	SCV004038990	likely benign	not specified	2023-08-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573614	SCV004162028	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	NOTCH1: BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573614	SCV004564886	likely benign	not provided	2023-11-09	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001573614	SCV005228683	likely benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000121682	SCV000085880	not provided	not specified	2013-09-19	no assertion provided	reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573614	SCV001799771	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001573614	SCV001809765	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001573614	SCV001959023	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573614	SCV001972799	likely benign	not provided		no assertion criteria provided	clinical testing