ClinVar Miner

Variants in gene IVD

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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
44 61 127 85 32 302

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Isovaleryl-CoA dehydrogenase deficiency 37 52 118 65 29 268
not provided 14 10 11 12 0 44
not specified 0 0 1 22 10 33
Inborn genetic diseases 0 2 1 0 0 3
Isovaleric acidemia, type I 2 0 0 0 0 2
Isovaleric acidemia, type II 1 0 0 0 0 1
Isovaleric acidemia, type III 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 29 15 38 62 6 150
Illumina Clinical Services Laboratory,Illumina 1 0 62 10 23 96
Counsyl 0 33 12 1 0 46
GeneDx 7 7 3 21 5 43
Natera, Inc. 0 2 20 2 4 28
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 8 2 7 2 4 23
Baylor Genetics 11 5 1 0 0 17
OMIM 7 0 0 0 0 7
PreventionGenetics, PreventionGenetics 0 0 0 0 5 5
Fulgent Genetics,Fulgent Genetics 3 1 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 2 0 0 3
Ambry Genetics 0 2 1 0 0 3
Mendelics 3 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 3 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 0 1 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 0 2 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Pediatric Metabolic Diseases,Hacettepe University 0 1 0 0 0 1
Laboratory of Genetics and Genomics,Institute for Developing Science and Health Initiatives Foundation 1 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 1

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