ClinVar Miner

Variants in gene TMEM67

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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 risk factor total
72 61 140 70 38 1 309

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Joubert syndrome 6 44 11 58 2 8 0 119
Meckel syndrome, type 3 11 32 58 4 5 0 101
not provided 13 8 35 24 13 0 88
Joubert syndrome; Meckel-Gruber syndrome 16 2 35 19 13 0 85
Nephronophthisis 11 5 2 54 1 8 0 70
not specified 0 0 8 37 18 0 54
Joubert syndrome with hepatic defect 7 0 5 0 0 0 12
RHYNS syndrome 3 1 4 0 0 0 8
Nephronophthisis 2 0 4 0 0 0 6
Inborn genetic diseases 1 3 1 0 0 0 5
Meckel-Gruber syndrome 0 3 2 0 0 0 5
TMEM67-Related Disorders 3 1 1 0 0 0 5
Joubert syndrome 1 1 0 1 0 2 0 4
Joubert syndrome with hepatic defect; Joubert syndrome 6; Meckel syndrome, type 3; Bardet-Biedl syndrome 14; Nephronophthisis 11 3 0 1 0 0 0 4
Congenital ocular coloboma; Global developmental delay; Visual impairment; Nystagmus; Absent speech; Barrel-shaped chest; Nephropathy; Cerebellar vermis hypoplasia; Tremor; Pancreatitis; Cerebellar malformation; Peritonitis; Infantile muscular hypotonia; Intellectual disability, severe 0 2 0 0 0 0 2
Iris coloboma; Nystagmus; Generalized hypotonia; Cerebellar vermis hypoplasia 1 1 0 0 0 0 2
Joubert syndrome 0 0 2 0 0 0 2
Joubert syndrome; Oligohydramnios; Renal cyst 0 2 0 0 0 0 2
Bardet-Biedl syndrome 14 0 0 1 0 0 0 1
Bardet-Biedl syndrome 14, modifier of 0 0 0 0 0 1 1
Bardet-Biedl syndrome; Joubert syndrome with hepatic defect; Joubert syndrome 6 0 1 0 0 0 0 1
Bardet-Biedl syndrome; Joubert syndrome with hepatic defect; Joubert syndrome 6; Meckel syndrome, type 3; Bardet-Biedl syndrome 14; Nephronophthisis 11 0 1 0 0 0 0 1
Intellectual disability 0 0 1 0 0 0 1
Joubert syndrome and related disorders 0 1 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 16 2 35 27 13 0 93
Illumina Clinical Services Laboratory,Illumina 3 1 57 6 8 0 70
GeneDx 8 3 4 22 14 0 51
UW Hindbrain Malformation Research Program,University of Washington 34 5 0 0 0 0 39
PreventionGenetics, PreventionGenetics 0 0 0 19 14 0 33
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 30 0 0 0 0 30
OMIM 25 0 0 0 0 1 26
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 1 12 3 6 0 25
Genetic Services Laboratory, University of Chicago 2 2 4 9 3 0 20
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 9 0 0 0 13
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 3 4 0 0 0 10
Baylor Genetics 1 0 8 0 0 0 9
Gharavi Laboratory,Columbia University 0 0 9 0 0 0 9
Broad Institute Rare Disease Group, Broad Institute 2 3 3 0 0 0 8
Ambry Genetics 1 3 1 0 0 0 5
Fulgent Genetics,Fulgent Genetics 3 1 1 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 3 0 0 5
Mendelics 1 0 1 0 2 0 4
GeneReviews 2 0 2 0 0 0 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 4 0 0 0 0 4
Integrated Genetics/Laboratory Corporation of America 1 0 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 3
Molecular Biology Laboratory, Fundació Puigvert 1 2 0 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
TIDEX, University of British Columbia 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Sydney Genome Diagnostics,Children's Hospital Westmead 2 0 0 0 0 0 2
Precision Medicine Center,Zhengzhou University 0 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Kasturba Medical College, Manipal University 0 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Tolun Lab, Human Genetics Laboratory,Bogazici University 0 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 1
Cancer Diagnostics Division,Gene Solutions 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
School of Computer Science,University of Waterloo 1 0 0 0 0 0 1

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