ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5934+8G>A

gnomAD frequency: 0.00002  dbSNP: rs747822127
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543610 SCV000659471 likely benign Adams-Oliver syndrome 5 2024-01-29 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769591 SCV000900988 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-02-01 criteria provided, single submitter clinical testing

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