ClinVar Miner

Submissions for variant NC_000007.13:g.(?_45109405)_(45109580_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001876459 SCV002119735 pathogenic Cerebral cavernous malformation 2 2023-11-03 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 6 of the CCM2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in CCM2 are known to be pathogenic (PMID: 18300272, 24689081). A similar copy number variant has been observed in individual(s) with clinical features of cerebral cavernous malformations (PMID: 23595507). For these reasons, this variant has been classified as Pathogenic.

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