Submissions for variant NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=)

gnomAD frequency: 0.00002  dbSNP: rs886038974

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002310904	SCV000319451	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: 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	RCV000608215	SCV000732359	likely benign	not specified	2017-04-12	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.
Genome-Nilou Lab	RCV002270156	SCV002554378	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270155	SCV002554379	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Invitae	RCV002270156	SCV003448911	benign	Adams-Oliver syndrome 5	2023-12-30	criteria provided, single submitter	clinical testing