ClinVar Miner

Submissions for variant NM_058195.4(CDKN2A):c.69C>T (p.Phe23=) (rs374360796)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124231 SCV000167654 benign not specified 2014-03-14 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.
Counsyl RCV000411993 SCV000489007 likely benign Melanoma-pancreatic cancer syndrome 2016-08-01 criteria provided, single submitter clinical testing
Invitae RCV000558065 SCV000637443 likely benign Hereditary melanoma 2020-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569047 SCV000669155 likely benign Hereditary cancer-predisposing syndrome 2015-01-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Health, Inc RCV000569047 SCV000684501 likely benign Hereditary cancer-predisposing syndrome 2016-04-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679794 SCV000807162 likely benign not provided 2017-11-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679794 SCV001134104 benign not provided 2019-06-11 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.