ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.105T>C (p.Tyr35=)

gnomAD frequency: 0.00011  dbSNP: rs747928827
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001463025 SCV001666955 likely benign Fanconi anemia 2024-11-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478565 SCV004221904 likely benign not provided 2022-11-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948253 SCV004760688 likely benign FANCA-related disorder 2019-12-26 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.