ClinVar Miner

Submissions for variant NM_052873.3(IFT43):c.2T>A (p.Met1Lys) (rs769724508)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000578472 SCV000680462 pathogenic SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY 2018-02-05 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics,University of Washington RCV000851214 SCV000993465 likely pathogenic Short Rib Polydactyly Syndrome 2017-03-30 no assertion criteria provided research

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