ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.276-7C>G

gnomAD frequency: 0.00042  dbSNP: rs200507087
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
GeneDx RCV001703492 SCV000514472 likely benign not provided 2021-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000553029 SCV000636462 likely benign Progressive myoclonic epilepsy 2025-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488888 SCV002800051 likely benign Action myoclonus-renal failure syndrome 2021-10-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912630 SCV004731242 likely benign SCARB2-related disorder 2019-05-17 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.