ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.2521C>T (p.Leu841=)

gnomAD frequency: 0.00001  dbSNP: rs60990156
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002160212 SCV002420325 likely benign not provided 2023-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494310 SCV002795130 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-12-22 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. 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.