ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.354C>G (p.Tyr118Ter)

dbSNP: rs765548101
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414908 SCV000492970 pathogenic Cavernous hemangioma 2014-10-15 criteria provided, single submitter clinical testing

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