ClinVar Miner

Submissions for variant NM_000100.3(CSTB):c.-210CCCCGCCCCGCG(2_3)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000008906 SCV000029116 pathogenic Unverricht-Lundborg syndrome 2001-09-25 no assertion criteria provided literature only
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000008906 SCV000891490 pathogenic Unverricht-Lundborg syndrome 2017-12-30 no assertion criteria provided curation

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