ClinVar Miner

Variants in gene TTC21B

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 not provided total
20 20 188 110 56 1 328

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Nephronophthisis 12 6 2 94 13 21 0 135
Asphyxiating thoracic dystrophy 4 4 0 86 15 21 0 126
Jeune thoracic dystrophy; Nephronophthisis 4 4 58 24 29 0 119
not provided 3 4 35 44 17 1 101
not specified 0 1 7 48 24 0 58
none provided 0 0 5 6 18 0 29
Jeune thoracic dystrophy 1 5 10 1 1 0 16
Joubert syndrome 0 0 8 1 1 0 10
Nephrotic syndrome 1 0 3 0 0 0 4
Joubert syndrome 1 0 0 1 0 2 0 3
Short rib-polydactyly syndrome, Majewski type 2 3 0 0 0 0 3
Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 1 0 1 0 0 0 2
Finnish congenital nephrotic syndrome 1 0 1 0 0 0 2
Infantile nephronophthisis 2 0 0 0 0 0 2
Renal dysplasia and retinal aplasia 1 1 0 0 0 0 2
Retinal dystrophy 1 1 0 0 0 0 2
TTC21B-Related Disorders 0 0 2 0 0 0 2
Type IV short rib polydactyly syndrome 2 2 0 0 0 0 2
Chronic kidney disease 0 0 0 1 0 0 1
Epilepsy 1 0 0 0 0 0 1
Meckel-Gruber-like syndrome 0 0 0 0 1 0 1
SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 4 4 58 55 30 0 151
Illumina Clinical Services Laboratory,Illumina 0 0 96 16 22 0 132
GeneDx 1 3 11 29 35 0 79
PreventionGenetics, PreventionGenetics 0 0 0 21 18 0 39
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 11 7 18 0 37
Genetic Services Laboratory, University of Chicago 0 0 5 13 1 0 19
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 11 0 8 0 19
University of Washington Center for Mendelian Genomics, University of Washington 0 10 0 0 0 0 10
Dan Cohn Lab,University Of California Los Angeles 4 4 2 0 0 0 10
OMIM 8 0 0 0 0 0 8
Baylor Genetics 1 0 7 0 0 0 8
Gharavi Laboratory,Columbia University 2 0 6 0 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 1 0 0 5
Sydney Genome Diagnostics,Children's Hospital Westmead 1 0 3 0 0 0 4
Precision Medicine Center,Zhengzhou University 1 1 2 0 0 0 4
Mendelics 0 0 1 0 2 0 3
Broad Institute Rare Disease Group, Broad Institute 1 0 1 0 1 0 3
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 0 2
Blueprint Genetics 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 1 0 0 0 2
Sharon lab,Hadassah-Hebrew University Medical Center 1 1 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 1

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