Submissions for variant NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=)

gnomAD frequency: 0.00005  dbSNP: rs199719103

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000473707	SCV000559899	likely benign	Adams-Oliver syndrome 5	2023-07-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000605043	SCV000727015	likely benign	not specified	2018-01-24	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	RCV000473707	SCV002554958	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270528	SCV002554959	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002475913	SCV002797433	likely benign	Aortic valve disease 1; Adams-Oliver syndrome 5	2021-08-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003343849	SCV004074236	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-08-23	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.