ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4931G>A (p.Arg1644Gln)

gnomAD frequency: 0.00046  dbSNP: rs138151018
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501507 SCV000594741 likely benign not specified 2015-10-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000525806 SCV000626376 benign Fanconi anemia 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001567966 SCV001791749 likely benign not provided 2020-09-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21279724, 28717660, 31296309, 26067930)
Sema4, Sema4 RCV002255419 SCV002529866 likely benign Hereditary cancer-predisposing syndrome 2021-07-26 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000501507 SCV002774623 benign not specified 2021-07-15 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316648 SCV004015696 benign Premature ovarian failure 15 2023-07-07 criteria provided, single submitter 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.