ClinVar Miner

Submissions for variant NM_001330360.2(POLA1):c.1687-15C>T

gnomAD frequency: 0.00441  dbSNP: rs11573348
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002506640 SCV002805098 likely benign X-linked reticulate pigmentary disorder; X-linked intellectual disability, van Esch type 2021-08-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001523389 SCV001733085 benign not provided 2025-01-30 criteria provided, single submitter 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.