ClinVar Miner

Submissions for variant NM_006579.3(EBP):c.141G>T (p.Trp47Cys)

dbSNP: rs587783599
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145922 SCV000193059 pathogenic Chondrodysplasia punctata 2 X-linked dominant 2013-02-08 criteria provided, single submitter clinical testing
OMIM RCV000190980 SCV000245867 pathogenic MEND syndrome 2010-11-01 no assertion criteria provided literature only

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