ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.3280+38C>T

gnomAD frequency: 0.47937  dbSNP: rs489056
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001685797 SCV001897423 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789523 SCV002031563 benign Laurence-Moon syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789521 SCV002031565 benign Ataxia-hypogonadism-choroidal dystrophy syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789522 SCV002031566 benign Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789520 SCV002031567 benign Hereditary spastic paraplegia 39 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001685797 SCV005313136 benign not provided criteria provided, single submitter not provided

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.