ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.219-5G>C (rs1286893141)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568666 SCV000669152 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-14 criteria provided, single submitter clinical testing The c.219-5G>C intronic variant results from a G to C substitution 5 nucleotides upstream from coding exon 2 in the CDK4 gene. This nucleotide position is not 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.
Invitae RCV001439244 SCV001642129 likely benign Hereditary melanoma 2020-11-07 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.