ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.3699+42G>A

gnomAD frequency: 0.24937  dbSNP: rs538852
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 RCV000826723 SCV000968318 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001789373 SCV002031577 benign Laurence-Moon syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789371 SCV002031578 benign Ataxia-hypogonadism-choroidal dystrophy syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789372 SCV002031579 benign Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789370 SCV002031580 benign Hereditary spastic paraplegia 39 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000826723 SCV005313143 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.