ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11382A>G (p.Ile3794Met)

gnomAD frequency: 0.00001  dbSNP: rs200521328
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 RCV001047098 SCV001211033 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160360 SCV003889143 uncertain significance Inborn genetic diseases 2023-02-28 criteria provided, single submitter clinical testing The c.11382A>G (p.I3794M) alteration is located in exon 58 (coding exon 57) of the USH2A gene. This alteration results from a A to G substitution at nucleotide position 11382, causing the isoleucine (I) at amino acid position 3794 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001271136 SCV001451989 uncertain significance Usher syndrome type 2A 2020-09-16 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.