ClinVar Miner

Submissions for variant NM_001567.4(INPPL1):c.2071C>T (p.Arg691Trp)

dbSNP: rs878853123
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Center for Mendelian Genomics, University of Washington RCV000224467 SCV000281682 pathogenic Opsismodysplasia 2013-01-08 no assertion criteria provided research

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