ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.5426_5427dupAG (p.Gln1810Serfs) (rs180177363)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000050086 SCV000220447 likely pathogenic Cohen syndrome 2014-06-23 criteria provided, single submitter literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050086 SCV000082495 probable-pathogenic Cohen syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.
SNPedia RCV000058899 SCV000090420 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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