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 not provided total
148 124 435 496 74 1 4 1149

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Familial aplasia of the vermis; Meckel-Gruber syndrome 100 45 297 418 25 0 0 885
not provided 23 18 59 60 49 0 0 196
Joubert syndrome 6 45 13 66 2 8 0 0 130
Meckel syndrome, type 3 19 32 59 4 5 0 0 109
COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 11 4 43 23 0 0 0 81
Nephronophthisis 11 6 2 54 1 8 0 0 71
not specified 0 0 23 33 22 0 0 68
Inborn genetic diseases 2 3 24 4 0 0 0 33
TMEM67-related condition 2 7 7 15 2 0 0 33
COACH syndrome 1 7 3 5 0 2 0 0 17
Joubert syndrome and related disorders 7 6 0 0 0 0 0 13
RHYNS syndrome 3 1 4 0 0 0 0 8
TMEM67-Related Disorders 4 2 1 0 0 0 0 7
Nephronophthisis 0 0 2 0 0 0 4 6
Meckel-Gruber syndrome 0 3 2 0 0 0 0 5
Joubert syndrome 1 1 0 1 0 2 0 0 4
Kidney disorder 0 0 3 1 0 0 0 4
COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; Bardet-Biedl syndrome 14; Nephronophthisis 11 2 0 0 0 0 0 0 2
Congenital ocular coloboma; Global developmental delay; Visual impairment; Nystagmus; Absent speech; Barrel-shaped chest; Kidney damage; Cerebellar vermis hypoplasia; Tremor; Pancreatitis; Cerebellar malformation; Peritonitis; Infantile muscular hypotonia; Intellectual disability, severe 0 2 0 0 0 0 0 2
Enlarged kidney; Multiple renal cysts; Anhydramnios 0 2 0 0 0 0 0 2
Familial aplasia of the vermis 0 0 2 0 0 0 0 2
Familial aplasia of the vermis; Oligohydramnios; Renal cyst 0 2 0 0 0 0 0 2
Iris coloboma; Nystagmus; Generalized hypotonia; Cerebellar vermis hypoplasia 1 1 0 0 0 0 0 2
Abnormality of the nervous system 1 0 0 0 0 0 0 1
Atypical hemolytic-uremic syndrome 0 0 1 0 0 0 0 1
Bardet-Biedl syndrome 14 0 0 1 0 0 0 0 1
Bardet-Biedl syndrome 14, modifier of 0 0 0 0 0 1 0 1
Bardet-Biedl syndrome; COACH syndrome 1; Joubert syndrome 6 0 1 0 0 0 0 0 1
Ciliopathy 0 0 1 0 0 0 0 1
Intellectual disability 0 0 1 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 0 1
Spastic ataxia 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 72
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 100 45 297 423 25 0 0 890
GeneDx 15 5 30 49 48 0 0 147
Fulgent Genetics, Fulgent Genetics 13 4 43 23 0 0 0 83
Illumina Laboratory Services, Illumina 3 1 57 6 8 0 0 70
PreventionGenetics, part of Exact Sciences 2 7 8 32 15 0 0 64
UW Hindbrain Malformation Research Program, University of Washington 34 5 0 0 0 0 0 39
Ambry Genetics 2 3 24 4 0 0 0 33
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 6 15 2 0 0 0 32
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 30 0 0 0 0 0 30
CeGaT Center for Human Genetics Tuebingen 4 1 12 7 3 0 0 27
OMIM 25 0 0 0 0 1 0 26
Eurofins Ntd Llc (ga) 3 1 12 3 6 0 0 25
Genetic Services Laboratory, University of Chicago 2 5 5 9 3 0 0 24
Revvity Omics, Revvity 7 6 2 0 0 0 0 15
Baylor Genetics 3 0 8 0 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 1 1 5 3 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 3 4 0 0 0 0 10
Gharavi Laboratory, Columbia University 0 0 9 0 0 0 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 2 4 0 0 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 3 3 0 0 0 0 8
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 3 4 0 0 0 0 0 7
Clinical Genetics, Academic Medical Center 1 1 0 1 3 0 0 6
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 4 1 0 0 0 5
Mendelics 1 0 2 0 2 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 1 3 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 1 0 2 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 0 4 0 0 0 0 5
GeneReviews 0 0 0 0 0 0 4 4
Mayo Clinic Laboratories, Mayo Clinic 1 0 3 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 0 4
3billion 1 1 2 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 2 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 0 1 0 0 0 3
Molecular Biology Laboratory, Fundació Puigvert 1 2 0 0 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 0 2
TIDEX, University of British Columbia 2 0 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 2
Genotek, Genotek Ltd. 0 0 2 0 0 0 0 2
University of Iowa Renal Genetics Clinic, University of Iowa 0 2 0 0 0 0 0 2
Molecular Genetics laboratory, Necker Hospital 0 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 2 0 0 0 0 0 0 2
Precision Medicine Center, Zhengzhou University 0 0 2 0 0 0 0 2
Suma Genomics 1 1 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 1
Tolun Lab, Human Genetics Laboratory, Bogazici University 0 0 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 0 1
Cancer Diagnostics Division, Gene Solutions 0 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 1
School of Computer Science, University of Waterloo 1 0 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 0 0 1

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