ClinVar Miner

Submissions for variant NM_016008.4(DYNC2LI1):c.394C>A (p.Gln132Lys)

dbSNP: rs76483206
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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 RCV000516090 SCV000612133 uncertain significance 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 RCV000516090 SCV001479549 likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly no assertion criteria provided research

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