ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.*7T>C (rs121908710)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160461 SCV000211026 benign not specified 2014-09-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000206507 SCV000259982 uncertain significance Familial cancer of breast 2015-08-16 criteria provided, single submitter clinical testing This sequence change falls in the 3'UTR of the CHEK2 gene. It does not change the encoded amino acid sequence of the CHEK2 protein. This variant is present in population databases (rs121908710, 0.02%) and has been reported in the literature. ClinVar contains an entry for this variant (RCV000160461, RCV000119290 ). In summary, this is rare change that is not expected to impact CHEK2 protein. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.
Counsyl RCV000206507 SCV000488398 uncertain significance Familial cancer of breast 2016-03-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000160461 SCV000594111 uncertain significance not specified 2016-10-11 criteria provided, single submitter clinical testing
Color RCV000584174 SCV000689619 likely benign Hereditary cancer-predisposing syndrome 2015-09-08 criteria provided, single submitter clinical testing
Mendelics RCV000206507 SCV001141344 likely benign Familial cancer of breast 2019-05-28 criteria provided, single submitter clinical testing
Institute. of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague RCV000119290 SCV000154114 not provided not provided no assertion provided not provided

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