ClinVar Miner

Submissions for variant NM_004606.5(TAF1):c.235+3G>A

gnomAD frequency: 0.00014  dbSNP: rs368024152
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003565502 SCV004316011 benign not provided 2024-08-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003565502 SCV005411446 uncertain significance not provided 2023-08-30 criteria provided, single submitter clinical testing BS2
GenomeConnect, ClinGen RCV001825222 SCV002074952 not provided X-linked dystonia-parkinsonism no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 10-06-2020 by Lab or GTR ID 239772. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
PreventionGenetics, part of Exact Sciences RCV003923334 SCV004738814 likely benign TAF1-related disorder 2024-08-26 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.