ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.131C>A (p.Ala44Asp)

gnomAD frequency: 0.00001  dbSNP: rs1553516687
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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 RCV000516137 SCV000612062 pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000516137 SCV001479414 likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly no assertion criteria provided research

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