ClinVar Miner

Submissions for variant NC_000011.9:g.(?_94153291)_(94225967_?)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 RCV002239014 SCV002509307 pathogenic Ataxia-telangiectasia-like disorder 2022-05-03 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the MRE11 gene has been identified. Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with MRE11-related conditions. For these reasons, this variant has been classified as Pathogenic.

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