Submissions for variant NM_017617.5(NOTCH1):c.6768G>A (p.Ala2256=)

gnomAD frequency: 0.00001  dbSNP: rs575575412

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000606494	SCV000726918	likely benign	not specified	2018-01-29	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	RCV002528614	SCV003285484	likely benign	Adams-Oliver syndrome 5	2023-10-12	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000606494	SCV004029562	likely benign	not specified	2023-07-29	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003485616	SCV004239541	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-09-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003485616	SCV005027346	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-10-12	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.