ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6049_6050del (p.Ser2017fs) (rs864622063)

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Total submissions: 2
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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 RCV000206353 SCV000259217 pathogenic Adams-Oliver syndrome 5 2014-01-07 criteria provided, single submitter research
OMIM RCV000206353 SCV000262556 pathogenic Adams-Oliver syndrome 5 2016-01-30 no assertion criteria provided literature only

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