ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2434G>C (p.Gly812Arg)

dbSNP: rs201620755
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Total submissions: 1
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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 RCV001170159 SCV001332709 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-01-03 criteria provided, single submitter clinical testing

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