ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.24C>T (p.Phe8=)

gnomAD frequency: 0.31375  dbSNP: rs5771270
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 RCV001514159 SCV001721939 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001514159 SCV001759321 benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001514159 SCV005275913 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000614038 SCV000734135 benign Microcephaly and chorioretinopathy 1 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701076 SCV001924995 benign not specified no assertion criteria provided 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.