ClinVar Miner

Submissions for variant NC_000022.11:g.(?_28734393)_(28734725_?)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 RCV001031287 SCV001194593 pathogenic Familial cancer of breast 2022-10-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2 of the CHEK2 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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