ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.684-3T>C

dbSNP: rs1555921387
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583713 SCV000689713 likely benign Hereditary cancer-predisposing syndrome 2017-04-11 criteria provided, single submitter clinical testing
Invitae RCV001313014 SCV001503489 likely benign Familial cancer of breast 2023-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583713 SCV002666669 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-18 criteria provided, single submitter clinical testing The c.684-3T>C intronic variant results from a T to C substitution 3 nucleotides upstream from coding exon 5 in the CHEK2 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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