ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro)

dbSNP: rs200520088
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Total submissions: 4
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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 RCV000769610 SCV000901007 benign Familial thoracic aortic aneurysm and aortic dissection 2016-03-16 criteria provided, single submitter clinical testing
Mendelics RCV000988302 SCV001137970 likely benign Adams-Oliver syndrome 5 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000988302 SCV002555095 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271027 SCV002555096 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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