ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.2059-8_2059-6del

dbSNP: rs558061753
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000464294 SCV000557734 benign Baller-Gerold syndrome 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001580500 SCV001817618 likely benign not provided 2020-05-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255405 SCV002527847 benign Hereditary cancer-predisposing syndrome 2020-09-10 criteria provided, single submitter curation

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.