ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.400del (p.Val134fs)

dbSNP: rs2128747719
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, University of Torino RCV001728077 SCV001976509 likely pathogenic Cerebral cavernous malformation 2021-10-06 no assertion criteria provided research

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