ClinVar Miner

Submissions for variant NM_014055.4(IFT81):c.1300_1302CTT[1] (p.Leu435del) (rs1555266475)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000585762 SCV000883152 uncertain significance SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Uncertain Significance - Insufficient Evidence, for Short-rib thoracic dysplasia 19 with or without polydactyly, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PM3 => For recessive disorders, detected in trans with a pathogenic variant (https://www.ncbi.nlm.nih.gov/pubmed/27666822).
OMIM RCV000585762 SCV000693691 pathogenic SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 2018-03-28 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics,University of Washington RCV000755165 SCV000882987 likely pathogenic Short Rib Polydactyly Syndrome no assertion criteria provided research

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