ClinVar Miner

Variants in gene PDYN

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
4 3 141 41 36 201

Condition and significance breakdown #

Total conditions: 6
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 1 2 81 33 21 130
Spinocerebellar ataxia type 23 4 2 44 8 19 73
Inborn genetic diseases 0 0 25 1 0 26
not specified 0 0 6 4 11 21
Autosomal dominant cerebellar ataxia 0 0 6 2 1 9
PDYN-related disorder 0 0 0 1 1 2

Submitter and significance breakdown #

Total submitters: 27
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 1 1 50 28 6 86
Illumina Laboratory Services, Illumina 0 0 44 7 20 71
Athena Diagnostics 0 0 15 4 13 32
Ambry Genetics 0 0 25 1 0 26
CeGaT Center for Human Genetics Tuebingen 0 1 8 5 4 18
GeneDx 0 0 6 2 5 13
Breakthrough Genomics, Breakthrough Genomics 0 0 3 2 8 13
Genetic Services Laboratory, University of Chicago 0 0 5 0 0 5
OMIM 4 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 3
Mendelics 0 0 3 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 1 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 1 3
PreventionGenetics, part of Exact Sciences 0 0 0 1 1 2
O&I group, Department of Genetics, University Medical Center of Groningen 1 0 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 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.