ClinVar Miner

Submissions for variant NM_006502.3(POLH):c.1247CTC[2] (p.Pro418del)

dbSNP: rs747834463
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000326191 SCV000463482 uncertain significance Xeroderma pigmentosum 2016-06-14 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625435 SCV000745351 uncertain significance Xeroderma pigmentosum variant type 2016-04-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058614 SCV002478371 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000326191 SCV002536977 likely benign Xeroderma pigmentosum 2020-08-10 criteria provided, single submitter curation
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625435 SCV000745892 uncertain significance Xeroderma pigmentosum variant type 2015-05-13 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.