ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5638+7G>C

gnomAD frequency: 0.00004  dbSNP: rs747630187
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001451077 SCV001654697 likely benign Adams-Oliver syndrome 5 2022-08-24 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150366 SCV003837913 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-02-18 criteria provided, single submitter clinical testing

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