ClinVar Miner

Submissions for variant NM_017780.3(CHD7):c.1018A>G (p.Met340Val) (rs41305525)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000081818 SCV000603074 benign not specified 2016-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716825 SCV000847669 likely benign History of neurodevelopmental disorder 2017-11-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000434714 SCV000510940 likely benign not provided 2016-10-03 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000081818 SCV000258118 benign not specified 2015-07-01 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000258102 SCV000328319 benign CHARGE association 2016-09-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081818 SCV000113753 benign not specified 2012-12-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081818 SCV000192751 likely benign not specified 2015-07-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328105 SCV000474382 likely benign Hypogonadism with anosmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000258102 SCV000474383 likely benign CHARGE association 2016-06-14 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000081818 SCV000864313 benign not specified 2017-09-07 criteria provided, single submitter clinical testing BS1, BS2, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, was seen in a healthy adult where full penetrance of the disorder is expected at an early age, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Invitae RCV000258102 SCV000562423 benign CHARGE association 2017-12-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000081818 SCV000312943 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.