Submissions for variant NM_017617.5(NOTCH1):c.4095C>T (p.Ser1365=)

gnomAD frequency: 0.00017  dbSNP: rs202023240

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000869379	SCV001010801	benign	Adams-Oliver syndrome 5	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001593087	SCV001817094	likely benign	not provided	2020-01-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000869379	SCV002554435	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002271097	SCV002554436	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002320002	SCV002629323	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-06-27	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 Diagnostics Laboratory, University Medical Center Utrecht	RCV001593087	SCV001929095	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001593087	SCV001964950	likely benign	not provided		no assertion criteria provided	clinical testing