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
45 84 185 103 37 1 385

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 33 77 119 39 22 0 279
not specified 0 0 11 75 30 0 99
not provided 13 4 47 3 11 0 77
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: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 17 4 67 32 22 0 142
Counsyl 6 72 49 7 0 0 134
GeneDx 9 4 21 54 21 0 109
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 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 2 4 0 10
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 1 0 8 0 10
OMIM 5 0 0 0 0 0 5
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
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 0 1 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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