ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.19_20insGCGGGTG (p.Lys7delinsSerGlyTer) (rs759648976)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dan Cohn Lab,University Of California Los Angeles RCV000516079 SCV000612136 likely pathogenic Short rib-polydactyly syndrome, Majewski type 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000516079 SCV001479713 likely pathogenic Short rib-polydactyly syndrome, Majewski type no assertion criteria provided research

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