ClinVar Miner

Submissions for variant NM_019074.4(DLL4):c.556C>T (p.Arg186Cys)

dbSNP: rs796065348
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV000190439 SCV000240093 pathogenic Adams-Oliver syndrome criteria provided, single submitter research
OMIM RCV000195285 SCV000249605 pathogenic Adams-Oliver syndrome 6 2015-08-19 no assertion criteria provided literature only

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