ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5595T>A (p.Gly1865=)

gnomAD frequency: 0.00001  dbSNP: rs767493892
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799356 SCV002043535 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001885233 SCV002107315 likely benign not provided 2021-06-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271306 SCV002554285 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271305 SCV002554286 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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