ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3732C>T (p.His1244=)

dbSNP: rs140699312
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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625355 SCV000745035 likely benign Microcephaly and chorioretinopathy 1 2017-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000883555 SCV001026870 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000883555 SCV001747349 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing TUBGCP6: BP4, BP7, BS2
GeneDx RCV000883555 SCV001802946 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700423 SCV001922895 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.