ClinVar Miner

Submissions for variant NM_000100.3(CSTB):c.66G>A (p.Gln22=) (rs386833443)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049370 SCV000081803 probable-pathogenic Unverricht-Lundborg syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.
GeneReviews RCV000049370 SCV000195823 pathogenic Unverricht-Lundborg syndrome 2014-11-25 no assertion criteria provided literature only

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