ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.2387C>T (p.Ser796Leu) (rs61910685)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000176130 SCV000612359 benign not specified 2016-12-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176130 SCV000227735 benign not specified 2015-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000176130 SCV000512055 benign not specified 2016-02-26 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.
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000176130 SCV000864304 likely benign not specified 2017-05-09 criteria provided, single submitter clinical testing BP4,BP6; This alteration is predicted to be tolerated by multiple functional prediction tools, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Invitae RCV000540731 SCV000645908 benign Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2018-01-04 criteria provided, single submitter clinical testing
PreventionGenetics RCV000176130 SCV000317291 likely benign not specified 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.