ClinVar Miner

Submissions for variant NC_000007.13:g.(?_45103497)_(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
Labcorp Genetics (formerly Invitae), Labcorp RCV003122806 SCV003795659 pathogenic Cerebral cavernous malformation 2 2022-05-27 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3-6 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). This variant has not been reported in the literature in individuals affected with CCM2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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