Submissions for variant NM_017617.5(NOTCH1):c.165G>A (p.Pro55=)

gnomAD frequency: 0.00012  dbSNP: rs373793124

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000461559	SCV000559869	benign	Adams-Oliver syndrome 5	2023-10-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313213	SCV000738375	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-07-28	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	RCV000461559	SCV002555169	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270514	SCV002555170	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579473	SCV001807399	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001579473	SCV001952640	likely benign	not provided		no assertion criteria provided	clinical testing