ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.2889G>A (p.Trp963Ter) (rs386834078)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000050068 SCV000220163 likely pathogenic Cohen syndrome 2014-03-14 criteria provided, single submitter literature only
GeneDx RCV000269979 SCV000329732 pathogenic not provided 2016-05-05 criteria provided, single submitter clinical testing The W963X nonsense variant has been reported previously in association with Cohen syndrome (Kolehmainen et al., 2004; Yu et al., 2013). It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret the W963X variant as pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050068 SCV000082477 probable-pathogenic Cohen syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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