ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1843G>A (p.Gly615Arg)

gnomAD frequency: 0.00001  dbSNP: rs764942073
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699565 SCV000828281 likely benign Adams-Oliver syndrome 5 2023-11-19 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150335 SCV003838471 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-05-31 criteria provided, single submitter clinical testing

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