ClinVar Miner

Submissions for variant NC_000007.13:g.(?_45039933)_(45115674_?)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 RCV003122805 SCV003795658 pathogenic Cerebral cavernous malformation 2 2021-11-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CCM2-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the CCM2 gene has been identified. Loss-of-function variants in CCM2 are known to be pathogenic (PMID: 18300272, 24689081). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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