ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.584T>G (p.Leu195Arg)

dbSNP: rs1562912426
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hehr Laboratory, Center for Human Genetics Regensburg RCV000681486 SCV000808936 likely pathogenic Cerebral cavernous malformation 2 2016-11-15 no assertion criteria provided clinical testing

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