ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.259G>A (p.Val87Ile) (rs34994927)

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
Athena Diagnostics Inc RCV000710578 SCV000840820 likely benign not provided 2017-10-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000296622 SCV000333999 likely benign not specified 2015-09-09 criteria provided, single submitter clinical testing
GeneDx RCV000296622 SCV000522200 likely benign not specified 2017-11-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000556302 SCV000645912 likely benign Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2017-12-04 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.