ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1227CTG[1] (p.Cys410del)

dbSNP: rs2052551741
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Medical Genetics, University of Washington RCV001257501 SCV001434326 uncertain significance Familial cancer of breast 2019-11-06 criteria provided, single submitter clinical testing To our knowledge, this sequence variant has not been previously reported in the literature. This variant is not present in the gnomAD databases https://gnomad.broadinstitute.org/. At this time, it is unknown whether or not this variant increases cancer risk; therefore, we interpret it as a variant of uncertain significance. PM2

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