ClinVar Miner

Variants in gene TMEM67

Minimum submission review status: Collection method:
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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 risk factor total
61 50 87 47 31 1 230

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
not provided 10 6 25 12 13 0 64
Joubert syndrome 6 42 6 5 0 0 0 52
not specified 0 0 6 37 18 0 52
Joubert syndrome; Meckel-Gruber syndrome 10 1 21 2 5 0 39
Nephronophthisis 2 0 30 1 2 0 35
Meckel syndrome type 3 7 30 2 0 0 0 34
Meckel-Gruber syndrome 0 3 28 1 2 0 34
Joubert syndrome 0 0 28 1 2 0 31
COACH syndrome 7 0 0 0 0 0 7
Inborn genetic diseases 1 3 1 0 0 0 5
TMEM67-Related Disorders 3 1 1 0 0 0 5
COACH syndrome; Joubert syndrome 6; Meckel syndrome type 3; Bardet-Biedl syndrome 14; Nephronophthisis 11 3 0 1 0 0 0 4
Nephronophthisis 11 4 0 0 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; Oligohydramnios; Renal cyst 0 2 0 0 0 0 2
RHYNS syndrome 2 0 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; COACH syndrome; Joubert syndrome 6 0 1 0 0 0 0 1
Bardet-Biedl syndrome; COACH syndrome; Joubert syndrome 6; Meckel syndrome type 3; Bardet-Biedl syndrome 14; Nephronophthisis 11 0 1 0 0 0 0 1
Joubert Syndrome and Related Disorders 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
GeneDx 8 3 4 22 14 0 51
Invitae 10 1 21 2 5 0 39
UW Hindbrain Malformation Research Program,University of Washington 34 5 0 0 0 0 39
Illumina Clinical Services Laboratory,Illumina 3 1 29 1 2 0 36
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
Gharavi Laboratory,Columbia University 0 0 9 0 0 0 9
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
Baylor Genetics 1 0 3 0 0 0 4
GeneReviews 2 0 2 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 3 0 0 0 0 4
Broad Institute Rare Disease Group,Broad Institute 1 1 2 0 0 0 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
TIDEX, University of British Columbia 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1

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