ClinVar Miner

Submissions for variant NM_000143.4(FH):c.1237-14_1237-9dup

dbSNP: rs779985493
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002516307 SCV000283663 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000310725 SCV000356670 likely benign Hereditary leiomyomatosis and renal cell cancer 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000310725 SCV000356671 likely benign Hereditary leiomyomatosis and renal cell cancer 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000231245 SCV000356672 likely benign Fumarase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818563 SCV002065563 likely benign not specified 2020-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907849 SCV004718365 likely benign FH-related condition 2023-10-13 criteria provided, single submitter 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).
Natera, Inc. RCV000231245 SCV002085300 likely benign Fumarase deficiency 2019-09-26 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.