ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.342+1G>A

dbSNP: rs397515518
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000055781 SCV000485143 likely pathogenic Alkaptonuria 2016-03-09 criteria provided, single submitter clinical testing
GeneReviews RCV000055781 SCV000086743 not provided Alkaptonuria no assertion provided literature only Mutational hot spot in the Slovak population
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV000055781 SCV004098962 pathogenic Alkaptonuria no assertion criteria provided research The variant was originally described in AKU patient in PMID:10482952. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00025).

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.