ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) (rs118066140)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000513813 SCV000841574 benign not provided 2018-02-16 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513813 SCV000610814 likely benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239241 SCV000296868 benign not specified 2015-11-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000239241 SCV000700575 benign not specified 2017-06-16 criteria provided, single submitter clinical testing
GeneDx RCV000239241 SCV000512628 benign not specified 2017-07-25 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.
Illumina Clinical Services Laboratory,Illumina RCV000404319 SCV000467113 likely benign Myotonia congenita 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000551093 SCV000636344 benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2017-12-08 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660618 SCV000782736 uncertain significance Congenital myotonia, autosomal recessive form 2017-09-21 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.