ClinVar Miner

Submissions for variant NM_012418.4(FSCN2):c.49G>A (p.Val17Ile)

gnomAD frequency: 0.00240  dbSNP: rs137853900
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625404 SCV000745254 likely benign Retinitis pigmentosa 30 2015-12-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000086938 SCV001119486 likely benign not provided 2025-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000625404 SCV002799279 likely benign Retinitis pigmentosa 30 2022-02-28 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV000086938 SCV000119190 not provided not provided no assertion provided not provided
Clinical Genetics, Academic Medical Center RCV001699037 SCV001917212 benign not specified no assertion criteria provided 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.