ClinVar Miner

Variants in gene CAPN1

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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
37 13 117 96 26 278

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 22 8 70 91 25 210
Inborn genetic diseases 0 0 54 3 0 57
Autosomal recessive spastic paraplegia type 76 20 6 8 0 4 37
CAPN1-related disorder 1 1 0 2 1 5
not specified 0 0 1 0 1 2

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 9 2 62 90 17 180
Ambry Genetics 0 0 54 3 0 57
GeneDx 6 2 4 0 11 23
CeGaT Center for Human Genetics Tuebingen 6 0 8 7 1 22
Breakthrough Genomics, Breakthrough Genomics 0 0 0 7 13 20
Paris Brain Institute, Inserm - ICM 12 0 0 0 0 12
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 0 0 0 0 6
PreventionGenetics, part of Exact Sciences 1 1 0 2 1 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 1 0 0 5
OMIM 4 0 0 0 0 4
Revvity Omics, Revvity 0 2 2 0 0 4
Genome-Nilou Lab 0 0 0 0 4 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 2 0 3
3billion 1 1 1 0 0 3
Baylor Genetics 0 1 1 0 0 2
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 2
Mendelics 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 1 1 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 1 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 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 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 1
Department of Neurology, The Third Xiangya Hospital, Central South University 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 1

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