ClinVar Miner

Submissions for variant NM_001312673.2(PCYT1A):c.996C>G (p.Pro332=)

gnomAD frequency: 0.00185  dbSNP: rs61737911
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 RCV000888971 SCV001032630 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000888971 SCV005305751 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000888971 SCV001923052 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000888971 SCV001970985 likely benign not provided 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.