ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2292C>T (p.Asn764=)

gnomAD frequency: 0.00006  dbSNP: rs775201110
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000551033 SCV000725245 likely benign not provided 2019-06-24 criteria provided, single submitter clinical testing
Invitae RCV001443891 SCV001646878 likely benign Adams-Oliver syndrome 5 2023-12-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001443891 SCV002554967 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270683 SCV002554968 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456266 SCV002737630 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-01-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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