ClinVar Miner

Submissions for variant NM_000100.3(CSTB):c.169-2A>G (rs386833441)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000049368 SCV000195831 pathogenic Unverricht-Lundborg syndrome 2014-11-25 no assertion criteria provided literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049368 SCV000081801 probable-pathogenic Unverricht-Lundborg syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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