ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3819T>C (p.Ile1273=)

gnomAD frequency: 0.00001  dbSNP: rs201242444
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001421253 SCV001623776 likely benign not provided 2023-09-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476747 SCV002801789 likely benign Medulloblastoma; Familial dysautonomia 2021-12-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826229 SCV002082003 likely benign Familial dysautonomia 2018-08-27 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.