ClinVar Miner

Submissions for variant NM_006579.3(EBP):c.587G>A (p.Trp196Ter)

dbSNP: rs104894794
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012246 SCV000032480 pathogenic Chondrodysplasia punctata 2 X-linked dominant 2004-09-15 no assertion criteria provided literature only

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