ClinVar Miner

Submissions for variant NM_022367.4(SEMA4A):c.1670G>A (p.Arg557Gln)

gnomAD frequency: 0.00088  dbSNP: rs137997761
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 RCV000909490 SCV001054301 likely benign not provided 2024-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000909490 SCV002005582 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function
Genome-Nilou Lab RCV003338862 SCV004048598 likely benign Cone-rod dystrophy 10 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338861 SCV004048599 likely benign Retinitis pigmentosa 35 2023-04-11 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.