ClinVar Miner

Submissions for variant NM_018685.5(ANLN):c.3325A>G (p.Ile1109Val)

gnomAD frequency: 0.00189  dbSNP: rs141247770
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 RCV001497093 SCV001701810 likely benign not provided 2023-12-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001497093 SCV002586170 benign not provided 2022-09-01 criteria provided, single submitter clinical testing ANLN: BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV002501709 SCV002809601 likely benign Focal segmental glomerulosclerosis 8 2022-05-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980436 SCV004795185 likely benign ANLN-related disorder 2020-08-05 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.