ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro)

dbSNP: rs770333242
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988305 SCV001137973 likely benign Adams-Oliver syndrome 5 2019-05-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170710 SCV001333311 benign Familial thoracic aortic aneurysm and aortic dissection 2018-02-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000988305 SCV002555136 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271146 SCV002555137 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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