ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.916-7C>G

dbSNP: rs551511374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873094 SCV001015026 benign Cerebral cavernous malformation 2 2023-02-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948201 SCV004762095 likely benign CCM2-related disorder 2020-04-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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