Submissions for variant NM_017617.5(NOTCH1):c.621C>T (p.Arg207=)

gnomAD frequency: 0.00003  dbSNP: rs756164624

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000461673	SCV000721860	likely benign	not provided	2019-10-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313219	SCV000739412	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-03-07	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.
Invitae	RCV002063680	SCV002449013	likely benign	Adams-Oliver syndrome 5	2023-10-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002063680	SCV002555127	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270538	SCV002555128	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000461673	SCV001807341	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000461673	SCV001967144	likely benign	not provided		no assertion criteria provided	clinical testing