Submissions for variant NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn)

gnomAD frequency: 0.00156  dbSNP: rs191357265

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000436384	SCV000510823	likely benign	not provided	2016-07-22	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000436384	SCV000570786	likely benign	not provided	2020-03-24	criteria provided, single submitter	clinical testing
Invitae	RCV001086567	SCV000659408	benign	Adams-Oliver syndrome 5	2024-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314122	SCV000739372	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-06-22	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.
Genome-Nilou Lab	RCV001086567	SCV002555162	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270247	SCV002555163	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502458	SCV002798477	likely benign	Aortic valve disease 1; Adams-Oliver syndrome 5	2021-08-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000436384	SCV004162066	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	NOTCH1: BS1
PreventionGenetics, part of Exact Sciences	RCV004544731	SCV004762126	benign	NOTCH1-related disorder	2020-08-28	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).