ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4587-10dup

dbSNP: rs766780122
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Total submissions: 3
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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 RCV000770626 SCV000902077 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000868979 SCV001010366 benign Adams-Oliver syndrome 5 2023-11-14 criteria provided, single submitter clinical testing
GeneDx RCV001585696 SCV001818131 likely benign not provided 2021-08-24 criteria provided, single submitter clinical testing

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