Submissions for variant NM_017617.5(NOTCH1):c.6366G>A (p.Pro2122=)

gnomAD frequency: 0.00002  dbSNP: rs762003410

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000602243	SCV000718659	likely benign	not specified	2017-04-24	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001472319	SCV001676448	likely benign	Adams-Oliver syndrome 5	2023-08-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001472319	SCV002553871	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270769	SCV002553872	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002368054	SCV002658048	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-12-07	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.