ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.*3dup (rs397824185)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248771 SCV000302781 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319506 SCV000459838 benign Non-syndromic syndactyly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374195 SCV000459839 benign Oculodentodigital dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293935 SCV000459840 benign Hypoplastic left heart syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001521083 SCV001730343 benign Oculodentodigital dysplasia, autosomal recessive 2020-12-01 criteria provided, single submitter clinical testing
GeneDx RCV001529262 SCV001897645 benign not provided 2019-10-20 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529262 SCV001742412 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000248771 SCV001924717 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000248771 SCV001930626 benign not specified 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.