ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr)

dbSNP: rs572103199
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457982 SCV000559874 likely benign Adams-Oliver syndrome 5 2023-12-15 criteria provided, single submitter clinical testing
GeneDx RCV001721526 SCV000727371 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170170 SCV001332720 benign Familial thoracic aortic aneurysm and aortic dissection 2019-02-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000457982 SCV002555058 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270519 SCV002555059 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001170170 SCV002709949 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-10-02 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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