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

Total submissions: 6

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
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