ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.9019C>T (p.Arg3007Ter)

gnomAD frequency: 0.00002  dbSNP: rs1242415839
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002281838 SCV002572348 uncertain significance not specified 2022-08-25 criteria provided, single submitter clinical testing Variant summary: FREM2 c.9019C>T (p.Arg3007X) is located in the last exon and results in a premature termination codon, predicted to cause a truncation of the encoded protein. The variant was absent in 251152 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.9019C>T in individuals affected with Cryptophthalmos Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Revvity Omics, Revvity RCV003138151 SCV003828375 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005008516 SCV005634430 likely pathogenic Isolated cryptophthalmia; Fraser syndrome 2 2024-04-27 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.