ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4487G>A (p.Cys1496Tyr) (rs587781259)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ITMI RCV000144236 SCV000172281 pathogenic Adams-Oliver syndrome 5 criteria provided, single submitter research
OMIM RCV000144236 SCV000189370 pathogenic Adams-Oliver syndrome 5 2014-09-04 no assertion criteria provided literature only

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