Submissions for variant NM_017617.5(NOTCH1):c.5118C>T (p.Leu1706=)

gnomAD frequency: 0.00006  dbSNP: rs747037396

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000608242	SCV000724336	likely benign	not specified	2017-11-07	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	RCV000655285	SCV000777215	likely benign	Adams-Oliver syndrome 5	2023-10-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000655285	SCV002554329	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270809	SCV002554330	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002333989	SCV002644677	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-10-17	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.