ClinVar Miner

Submissions for variant NM_001567.4(INPPL1):c.768_769del (p.Glu258fs) (rs746647683)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cormier-Daire Lab,IMAGINE RCV000224566 SCV000584167 pathogenic Opsismodysplasia no assertion criteria provided research
University of Washington Center for Mendelian Genomics,University of Washington RCV000224566 SCV000281679 pathogenic Opsismodysplasia 2013-01-08 no assertion criteria provided research

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