Submissions for variant NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=)

gnomAD frequency: 0.00058  dbSNP: rs371365065

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002310877	SCV000319339	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-03-06	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000532297	SCV000659450	likely benign	Adams-Oliver syndrome 5	2023-12-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001532183	SCV000715867	likely benign	not provided	2020-11-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23040356)
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000660169	SCV000782163	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001532183	SCV001747620	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4, BP7
Genome-Nilou Lab	RCV000532297	SCV002554360	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270150	SCV002554362	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500946	SCV002811946	likely benign	Aortic valve disease 1; Adams-Oliver syndrome 5	2021-10-06	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001532183	SCV001807900	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000614152	SCV001959057	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001532183	SCV001968875	likely benign	not provided		no assertion criteria provided	clinical testing