ClinVar Miner

Submissions for variant NM_000100.3(CSTB):c.212A>C (p.Gln71Pro) (rs121909346)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000008908 SCV000195833 pathogenic Unverricht-Lundborg syndrome 2014-11-25 no assertion criteria provided literature only
OMIM RCV000008908 SCV000029118 pathogenic Unverricht-Lundborg syndrome 2005-02-01 no assertion criteria provided literature only

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