ClinVar Miner

Variants in gene C12orf57

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Minimum submission review status: Collection method:
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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 total
17 8 103 118 17 250

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Temtamy syndrome 17 6 89 95 7 211
not provided 2 3 17 20 13 54
not specified 0 0 9 3 1 13
C12orf57-related disorder 0 0 5 7 0 12
Inborn genetic diseases 0 0 7 0 0 7
Global developmental delay; Hydronephrosis; Vesicoureteral reflux; Intellectual disability; Renal atrophy; Attention deficit hyperactivity disorder 1 0 0 0 0 1
Global developmental delay; Seizure; Abnormal corpus callosum morphology; Microphthalmia, isolated, with coloboma 0 1 0 0 0 1
Intellectual disability 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 11 4 86 96 5 202
GeneDx 1 2 11 17 13 44
Breakthrough Genomics, Breakthrough Genomics 0 0 2 3 10 15
PreventionGenetics, part of Exact Sciences 0 0 5 7 0 12
Genetic Services Laboratory, University of Chicago 0 0 9 2 0 11
Ambry Genetics 0 0 7 0 0 7
CeGaT Center for Human Genetics Tuebingen 0 1 1 3 0 5
OMIM 3 0 0 0 0 3
Baylor Genetics 2 0 1 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 0 2 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
3billion 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 0 1
Revvity Omics, Revvity 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Mendelics 1 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 1 1
New York Genome Center 0 0 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 1

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