ClinVar Miner

Submissions for variant NM_032040.5(CCDC8):c.43C>T (p.Arg15Trp)

gnomAD frequency: 0.00022  dbSNP: rs200189331
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000886267 SCV001029767 likely benign not provided 2024-11-14 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000886267 SCV001448966 likely benign not provided 2019-03-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV001333306 SCV001525851 uncertain significance 3M syndrome 3 2018-05-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000886267 SCV003798602 uncertain significance not provided 2022-08-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003948372 SCV004764752 likely benign CCDC8-related disorder 2019-10-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.