ClinVar Miner

Submissions for variant NM_014920.5(CILK1):c.238G>A (p.Glu80Lys)

dbSNP: rs868310475
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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 RCV000755167 SCV000882989 likely pathogenic Short rib-polydactyly syndrome no assertion criteria provided research

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