ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.1546C>T (p.Gln516Ter)

dbSNP: rs1050086118
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000755720 SCV000883200 pathogenic Short-rib thoracic dysplasia 7 with or without polydactyly 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Pathogenic, for Short-rib thoracic dysplasia 7 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. PVS1-Strong => PVS1 downgraded in strength to Strong. PS3 => Well-established functional studies show a deleterious effect (https://www.ncbi.nlm.nih.gov/pubmed/28400947).
University of Washington Center for Mendelian Genomics, University of Washington RCV000851217 SCV000993468 likely pathogenic Short rib-polydactyly syndrome 2017-03-30 no assertion criteria provided research

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