ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1376-13A>G (rs1064793330)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487384 SCV000565824 uncertain significance not provided 2018-02-08 criteria provided, single submitter clinical testing This variant is denoted CHEK2 c.1376-13A>G or IVS12-13A>G and consists of an A>G nucleotide substitution at the -13 position of intron 12 of the CHEK2 gene. In silico analyses, which include splice predictors and evolutionary conservation, are inconsistent in their assessment as to whether or not the variant is damaging. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. This variant was not observed at a significant allele frequency in large population cohorts (Lek 2016). Based on currently available evidence, it is unclear whether CHEK2 c.1376-13A>G is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000764371 SCV000895406 uncertain significance Familial cancer of breast; Li-Fraumeni syndrome 2; Osteosarcoma; Malignant tumor of prostate 2018-10-31 criteria provided, single submitter clinical testing
Color RCV000775796 SCV000910247 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-05 criteria provided, single submitter clinical testing

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