ClinVar Miner

Variants in gene combination NEB, RIF1

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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 not provided total
97 95 367 310 42 1 799

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 90 87 342 230 32 0 708
not provided 15 4 54 48 11 0 127
not specified 0 0 11 75 30 0 99
Nemaline myopathy 9 7 0 0 0 1 17
Inborn genetic diseases 1 1 1 0 0 0 3
Nemaline Myopathy, Recessive 0 0 0 1 1 0 2
Congenital muscular dystrophy; Muscle weakness 0 0 1 0 0 0 1
Low-set ears; Dysphagia; Abnormality of the neck 1 0 0 0 0 0 1
Muscular dystrophy; Progressive proximal muscle weakness; Limb pain 0 1 0 0 0 0 1
Peripheral neuropathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 74 18 212 246 26 0 576
Counsyl 7 72 50 7 0 0 136
GeneDx 9 4 21 58 21 0 113
Natera, Inc. 4 4 67 12 14 0 101
Illumina Clinical Services Laboratory,Illumina 0 1 76 3 18 0 98
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 9 7 2 0 12 0 30
Genetic Services Laboratory, University of Chicago 1 0 4 13 2 0 20
Athena Diagnostics Inc 1 0 4 3 10 0 18
Baylor Genetics 0 1 11 0 0 0 12
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 2 0 8 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 6 2 0 0 11
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 1 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 2 0 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 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
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Mayo Clinic 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
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: 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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