ClinVar Miner

Submissions for variant NM_022095.4(ZNF335):c.2500C>T (p.Pro834Ser)

gnomAD frequency: 0.00008  dbSNP: rs549937846
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 RCV001512089 SCV001719435 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV001512089 SCV001780972 likely benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243265 SCV002514188 benign Microcephalic primordial dwarfism due to ZNF335 deficiency 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956142 SCV004766905 likely benign ZNF335-related disorder 2022-12-09 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.