ClinVar Miner

Variants in gene combination NEB, RIF1

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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 not provided total
56 90 218 201 41 1 521

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Nemaline myopathy 2 45 84 146 14 7 0 281
not provided 13 4 50 133 26 0 209
not specified 0 0 11 75 30 0 99
Nemaline Myopathy, Recessive 0 0 39 10 4 0 53
Nemaline myopathy 4 7 0 0 0 1 12
Inborn genetic diseases 1 0 2 0 0 0 3
Congenital muscular dystrophy; Muscle weakness 0 0 1 0 0 0 1
Muscular dystrophy; Progressive proximal muscle weakness; Limb pain 0 1 0 0 0 0 1
Nemaline myopathy 2, autosomal recessive 1 0 0 0 0 0 1
Peripheral neuropathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 28 7 92 134 26 0 287
Counsyl 7 72 50 7 0 0 136
GeneDx 9 4 21 58 21 0 113
Illumina Clinical Services Laboratory,Illumina 0 1 41 10 4 0 56
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 27 3 12 0 45
PreventionGenetics,PreventionGenetics 0 0 0 16 23 0 39
Integrated Genetics/Laboratory Corporation of America 4 7 2 0 10 0 23
Genetic Services Laboratory, University of Chicago 1 0 4 13 2 0 20
Athena Diagnostics Inc 1 0 3 3 10 0 17
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 1 0 8 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 6 0 0 0 8
Mendelics 4 1 1 0 0 0 6
OMIM 5 0 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 2 1 1 0 0 0 4
Ambry Genetics 1 0 2 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 2 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 1 0 1 0 0 0 2
Claritas Genomics 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 0 1

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