ClinVar Miner

Submissions for variant NC_000022.11:g.(?_28703505)_(28703566_?)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 RCV000464194 SCV000564064 pathogenic Familial cancer of breast 2016-11-03 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 8 of the CHEK2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular gross deletion has not been reported in the literature, exon-level deletions in CHEK2 have been reported in affected patients and are known to be pathogenic (PMID: 16551709, 24763289, 17085682). For these reasons, this variant has been classified as Pathogenic.

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