Submissions for variant NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser)

gnomAD frequency: 0.00056  dbSNP: rs199654211

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000228385	SCV000290262	likely benign	Adams-Oliver syndrome 5	2024-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000121692	SCV000522067	likely benign	not specified	2017-06-15	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	RCV001170714	SCV000738425	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-01-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000660138	SCV000782132	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170714	SCV001333315	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-03-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000228385	SCV002555160	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269862	SCV002555161	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000121692	SCV004029542	likely benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003422001	SCV004162065	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	NOTCH1: PP2, BS1
PreventionGenetics, part of Exact Sciences	RCV003905161	SCV004718784	benign	NOTCH1-related condition	2019-12-20	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).
ITMI	RCV000121692	SCV000085890	not provided	not specified	2013-09-19	no assertion provided	reference population