Submissions for variant NM_017617.5(NOTCH1):c.591C>T (p.Asn197=)

gnomAD frequency: 0.00015  dbSNP: rs370684825

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000530850	SCV000659470	likely benign	Adams-Oliver syndrome 5	2025-01-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001697417	SCV000717478	likely benign	not provided	2020-12-16	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798896	SCV002043538	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-06-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000530850	SCV002555134	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270704	SCV002555135	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001798896	SCV002652613	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-12-01	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.