ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5218G>T (p.Ala1740Ser)

dbSNP: rs864622062
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular and Medical Genetics Group, King's College London RCV000205238 SCV000259216 uncertain significance Adams-Oliver syndrome 5 2014-03-14 criteria provided, single submitter research
Centre of Medical Genetics, University of Antwerp RCV000205238 SCV000747185 uncertain significance Adams-Oliver syndrome 5 2017-12-01 criteria provided, single submitter research
Genome-Nilou Lab RCV000205238 SCV002553364 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270014 SCV002553365 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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