ClinVar Miner

Submissions for variant NM_004356.4(CD81):c.182-5G>A

gnomAD frequency: 0.00005  dbSNP: rs562261414
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768174 SCV000898584 uncertain significance Immunodeficiency, common variable, 6 2021-11-23 criteria provided, single submitter clinical testing CD81:NM_004356:exon3: c.182-5G>A: This variant has not been reported in the literature, but is present in 7/18856 East Asian chromosomes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs562261414). This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV003727819 SCV004530576 likely benign not provided 2023-08-14 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.