Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
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. |
RCV000119290 | SCV000154114 | not provided | not provided | no assertion provided | not provided |