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
15 9 107 67 44 1 206

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Jeune thoracic dystrophy 1 3 61 14 5 0 84
Joubert syndrome 0 0 59 14 5 0 78
not provided 3 3 33 11 22 1 70
not specified 0 0 5 49 25 0 57
Jeune thoracic dystrophy; Nephronophthisis 2 2 20 4 19 0 47
Nephronophthisis 12 3 0 2 0 0 0 5
Asphyxiating thoracic dystrophy 4 4 0 0 0 0 0 4
Short rib-polydactyly syndrome, Majewski type 2 1 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
TTC21B-Related Disorders 0 0 2 0 0 0 2
Type IV short rib polydactyly syndrome 2 0 0 0 0 0 2
Epilepsy 1 0 0 0 0 0 1
SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 61 14 5 0 80
GeneDx 1 3 11 29 35 0 79
Invitae 3 2 20 4 19 0 48
PreventionGenetics 0 0 0 21 18 0 39
Genetic Services Laboratory, University of Chicago 0 0 6 13 0 0 19
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 11 0 8 0 19
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 2 8 0 14
Dan Cohn Lab,University Of California Los Angeles 4 4 2 0 0 0 10
OMIM 8 0 0 0 0 0 8
Gharavi Laboratory,Columbia University 2 0 6 0 0 0 8
Fulgent Genetics,Fulgent Genetics 1 0 1 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 1 0 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 0 1
Division of Genomic Diagnostics,The 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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 0 1

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