ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.31-10585G>C

gnomAD frequency: 0.23198  dbSNP: rs2289365
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625098 SCV000743773 benign Cerebral cavernous malformation 2 2017-07-28 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625098 SCV000745177 benign Cerebral cavernous malformation 2 2017-05-31 criteria provided, single submitter clinical testing
GeneDx RCV001527723 SCV001738851 benign not provided 2021-05-10 criteria provided, single submitter clinical testing

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