ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.334C>T (p.Arg112Cys)

gnomAD frequency: 0.00002  dbSNP: rs1399392600
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Total submissions: 2
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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 RCV000769616 SCV000901013 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-04-18 criteria provided, single submitter clinical testing
Invitae RCV003768312 SCV004693945 benign Adams-Oliver syndrome 5 2023-09-29 criteria provided, single submitter clinical testing

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