ClinVar Miner

Variants in gene RTN2

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Gene type:
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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 total
13 11 170 107 40 305

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Spastic paraplegia 6 1 83 79 22 191
not provided 0 5 32 23 24 82
Inborn genetic diseases 0 0 50 3 0 53
Hereditary spastic paraplegia 12 5 6 21 4 0 34
not specified 0 0 8 6 13 26
Hereditary spastic paraplegia 0 0 7 6 4 17
RTN2-related disorder 0 0 2 5 1 8
Spastic paraplegia, autosomal dominant 0 0 1 4 0 5
Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity 4 0 0 0 0 4

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 6 1 83 81 23 194
Ambry Genetics 0 0 50 3 0 53
GeneDx 0 0 10 8 23 41
Athena Diagnostics 0 1 15 2 12 30
Breakthrough Genomics, Breakthrough Genomics 0 0 1 6 15 22
Illumina Laboratory Services, Illumina 0 0 12 8 0 20
CeGaT Center for Human Genetics Tuebingen 0 2 5 11 0 18
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 7 6 4 17
OMIM 8 0 0 0 0 8
PreventionGenetics, part of Exact Sciences 0 0 2 5 1 8
Mayo Clinic Laboratories, Mayo Clinic 0 2 6 0 0 8
Revvity Omics, Revvity 0 2 4 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 3 1 0 6
Baylor Genetics 0 2 1 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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