ClinVar Miner

Variants in gene TUBGCP6

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Gene type:
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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
31 20 359 171 49 1 609

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 21 12 327 160 44 0 559
not specified 0 0 32 16 2 0 50
Microcephaly and chorioretinopathy, autosomal recessive, 1 8 8 14 3 6 1 40
Inborn genetic diseases 0 0 2 0 0 0 2
Microcephaly and chorioretinopathy with or without mental retardation 2 0 0 0 0 0 2
Microcephaly 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 18 4 320 157 42 0 541
Genetic Services Laboratory, University of Chicago 2 0 27 13 2 0 44
GeneDx 2 7 4 2 0 0 15
Baylor Genetics 2 0 11 0 0 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 5 1 0 0 7
OMIM 6 0 0 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 3 2 0 0 5
Service de Génétique Moléculaire,Hôpital Robert Debré 0 4 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 3 0 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 1 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Ambry Genetics 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1 0 0 2
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles 0 2 0 0 0 0 2
Mendelics 0 0 0 0 1 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1

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