ClinVar Miner

Variants in gene POLR1C

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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
38 16 100 52 6 14 180

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 11 3 66 51 6 1 134
Hypomyelinating leukodystrophy 11 30 6 9 0 0 13 41
Treacher Collins syndrome 3 5 4 22 1 2 0 33
Inborn genetic diseases 1 0 19 0 0 0 20
POLR1C-related condition 0 1 0 7 0 0 8
Treacher Collins syndrome 3; Hypomyelinating leukodystrophy 11 2 2 2 0 0 0 6
POLR1C-Related Disorders 1 3 1 0 0 0 4
not specified 0 0 3 0 1 0 4
Hearing impairment 0 0 2 0 0 0 2
Treacher Collins Syndrome, Recessive 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 6 0 57 44 3 0 110
MyeliNeuroGene Lab, McGill University Health Center Research Institute 28 0 0 0 0 0 28
Illumina Laboratory Services, Illumina 0 1 24 1 2 0 28
GeneDx 5 2 6 4 5 0 22
Ambry Genetics 1 0 19 0 0 0 20
GeneReviews 0 0 0 0 0 13 13
OMIM 11 0 0 0 0 0 11
PreventionGenetics, part of Exact Sciences 0 1 0 7 0 0 8
CeGaT Center for Human Genetics Tuebingen 2 0 4 1 0 0 7
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 4 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 3 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 1 2 1 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
Athena Diagnostics Inc 0 0 1 0 2 0 3
Genetic Services Laboratory, University of Chicago 0 0 3 0 0 0 3
Revvity Omics, Revvity 2 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1

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