ClinVar Miner

Submissions for variant NM_025129.5(FUZ):c.98_111+9del

gnomAD frequency: 0.00010  dbSNP: rs548706733
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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 RCV000516118 SCV000612102 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 RCV000516118 SCV001479714 likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly no assertion criteria provided research

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