Submissions for variant NM_017617.5(NOTCH1):c.156C>T (p.Phe52=)

gnomAD frequency: 0.00014  dbSNP: rs536299678

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000464964	SCV000559938	benign	Adams-Oliver syndrome 5	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001704575	SCV000714613	likely benign	not provided	2019-04-22	criteria provided, single submitter	clinical testing	In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Nucleotide substitution has no predicted effect on splicing and is not conserved across species; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002313221	SCV000739435	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-07-08	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.
Genome-Nilou Lab	RCV000464964	SCV002555171	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270542	SCV002555172	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001704575	SCV004162068	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4, BP7, BS1