ClinVar Miner

Variants in gene UCHL1

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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 risk factor total
14 10 73 84 27 1 195

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
not provided 8 5 42 80 26 0 153
Parkinson disease 5, autosomal dominant, susceptibility to 0 1 19 5 9 1 34
Inborn genetic diseases 0 0 15 1 0 0 16
Spastic paraplegia 79A, autosomal dominant, with ataxia 7 2 1 0 0 0 9
UCHL1-related disorder 0 1 2 5 0 0 8
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome 3 2 0 0 2 0 7
Parkinson disease 5, autosomal dominant, susceptibility to; Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome 0 0 1 3 0 0 4
not specified 0 0 3 0 1 0 4
Parkinson Disease, Dominant 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Labcorp Genetics (formerly Invitae), Labcorp 7 1 35 66 11 0 120
Illumina Laboratory Services, Illumina 0 0 18 6 9 0 33
GeneDx 0 0 3 9 17 0 29
Breakthrough Genomics, Breakthrough Genomics 0 0 1 6 15 0 22
Ambry Genetics 0 0 15 1 0 0 16
CeGaT Center for Human Genetics Tuebingen 1 2 4 5 0 0 12
OMIM 8 0 1 0 0 1 10
PreventionGenetics, part of Exact Sciences 0 1 2 5 0 0 8
Fulgent Genetics, Fulgent Genetics 0 0 1 3 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 1 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 1 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 2 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

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