Submissions for variant NM_017617.5(NOTCH1):c.3684C>T (p.Pro1228=)

gnomAD frequency: 0.00001  dbSNP: rs753711100

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000841698	SCV000983679	likely benign	not provided	2018-04-13	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.
Invitae	RCV001498758	SCV001703511	likely benign	Adams-Oliver syndrome 5	2021-05-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001498758	SCV002554474	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002271072	SCV002554475	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453923	SCV002614240	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2021-06-17	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.
PreventionGenetics, part of Exact Sciences	RCV003928315	SCV004746537	likely benign	NOTCH1-related condition	2019-05-08	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).