ClinVar Miner

Variants studied for Retinitis pigmentosa 28

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
14 46 74 13 11 152

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FAM161A 14 42 68 12 10 140
FAM161A, LOC129933843 0 4 6 1 1 12

Submitter and significance breakdown #

Total submitters: 18
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 6 1 68 10 7 92
Baylor Genetics 8 43 2 0 0 53
Fulgent Genetics, Fulgent Genetics 3 2 5 0 0 10
Genome-Nilou Lab 0 0 0 2 7 9
Revvity Omics, Revvity Omics 4 3 0 0 0 7
Counsyl 4 0 2 0 1 7
OMIM 6 0 0 0 0 6
Ocular Genomics Institute, Massachusetts Eye and Ear 3 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 1 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
3billion 1 0 0 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 1

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.