ClinVar Miner

Variants in gene ZFYVE26

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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
94 61 350 374 86 854

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Spastic paraplegia 70 13 135 296 61 575
Hereditary spastic paraplegia 15 21 45 192 18 26 297
not provided 9 9 54 61 32 159
not specified 0 0 9 42 35 75
Spastic Paraplegia, Recessive 0 0 3 1 0 4
Hereditary spastic paraplegia 1 0 1 0 0 2
Inborn genetic diseases 2 0 0 0 0 2
Retinal dystrophy 0 0 1 0 0 1
Toe walking 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 70 13 133 322 61 599
Illumina Clinical Services Laboratory,Illumina 0 0 161 18 25 204
GeneDx 2 4 4 36 41 87
Counsyl 2 39 23 0 0 64
Athena Diagnostics Inc 2 1 17 8 33 61
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 25 5 0 32
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 0 15 3 3 24
Baylor Genetics 3 0 11 0 0 14
Genetic Services Laboratory, University of Chicago 0 0 2 8 0 10
Paris Brain Institute,Inserm - ICM 7 0 2 0 0 9
OMIM 6 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 1 1 4 0 0 6
Mendelics 2 0 0 0 1 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 1 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 3
Ambry Genetics 2 0 0 0 0 2
Institute of Human Genetics,Cologne University 1 1 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 1 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 1 0 2
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 1 0 1 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 2
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 1 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 0 0 1 0 0 1

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