ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro)

dbSNP: rs759086770
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dan Cohn Lab, University Of California Los Angeles RCV000515826 SCV000612065 pathogenic Type IV short rib polydactyly syndrome 2017-06-01 no assertion criteria provided research
OMIM RCV000656518 SCV000778523 pathogenic Asphyxiating thoracic dystrophy 4 2018-06-18 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000515826 SCV001479581 likely pathogenic Type IV short rib polydactyly syndrome no assertion criteria provided research

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