ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.804-9C>G

gnomAD frequency: 0.00201  dbSNP: rs150362858
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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 RCV000871010 SCV001012602 benign Cerebral cavernous malformation 2 2024-01-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948166 SCV004757793 benign CCM2-related disorder 2019-11-25 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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