ClinVar Miner

Variants in gene TCTN2

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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
40 32 289 253 76 634

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial aplasia of the vermis; Meckel-Gruber syndrome 27 16 217 190 24 474
not provided 4 5 31 45 54 134
Joubert syndrome 24 6 1 53 2 14 76
Meckel syndrome, type 8 3 2 59 4 9 76
not specified 0 0 9 21 17 35
Inborn genetic diseases 0 0 31 3 0 34
TCTN2-related condition 0 0 0 12 1 13
Familial aplasia of the vermis 8 0 1 0 0 9
Joubert syndrome and related disorders 2 5 0 0 0 7
Meckel syndrome, type 8; Joubert syndrome 24 0 1 3 0 0 4
Meckel syndrome, type 6 1 2 0 0 0 3
TCTN2-Related Disorders 0 1 1 0 0 2
Meckel-Gruber syndrome 0 0 1 0 0 1
Microcephaly 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 27 16 217 194 24 478
GeneDx 2 2 20 35 64 123
Illumina Laboratory Services, Illumina 0 1 59 5 12 70
PreventionGenetics, part of Exact Sciences 0 0 0 19 16 35
Ambry Genetics 0 0 31 3 0 34
Genetic Services Laboratory, University of Chicago 2 0 4 14 3 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 5 5 0 0 12
CeGaT Center for Human Genetics Tuebingen 2 0 3 6 1 12
Eurofins Ntd Llc (ga) 1 1 6 2 1 11
UW Hindbrain Malformation Research Program, University of Washington 7 0 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 4 6
OMIM 4 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 1 3 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 4
Baylor Genetics 0 0 3 0 0 3
Revvity Omics, Revvity 2 0 1 0 0 3
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 2 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1

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