ClinVar Miner

Submissions for variant NM_000422.3(KRT17):c.834+5G>A

dbSNP: rs190234778
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000953041 SCV001099588 benign not provided 2023-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502946 SCV002808635 likely benign Pachyonychia congenita 2; Steatocystoma multiplex 2022-04-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000953041 SCV005330775 benign not provided 2024-08-01 criteria provided, single submitter clinical testing KRT17: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004758102 SCV005355059 likely benign KRT17-related disorder 2024-08-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.