ClinVar Miner

Submissions for variant NC_000007.14:g.(?_45038233)_(45038446_?)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 RCV001033365 SCV001196672 pathogenic Cerebral cavernous malformation 2 2023-10-23 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2 of the CCM2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with cerebral cavernous malformations (PMID: 17160895). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that a similar copy number variant affects CCM2 function (PMID: 18300272). For these reasons, this variant has been classified as Pathogenic.

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