Submissions for variant NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=)

gnomAD frequency: 0.00307  dbSNP: rs61751535

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000535931	SCV000659462	benign	Adams-Oliver syndrome 5	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000599705	SCV000714268	benign	not specified	2017-01-18	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	RCV002315056	SCV000738451	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-03-17	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	RCV000535931	SCV002554293	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270702	SCV002554295	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000599705	SCV004029551	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing