ClinVar Miner

Variants in gene TTLL5

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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
78 31 480 341 61 1 965

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 71 24 463 338 57 0 938
Inborn genetic diseases 0 0 55 3 0 0 58
Cone-rod dystrophy 19 8 1 0 0 3 1 13
Retinal dystrophy 1 5 3 0 0 0 9
not specified 0 0 0 0 6 0 6
Cone-rod dystrophy 3 1 0 0 0 0 4
Retinitis pigmentosa 3 0 0 0 0 0 3
TTLL5-related condition 1 1 0 0 0 0 2
Central areolar choroidal dystrophy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 68 18 455 326 45 0 912
Ambry Genetics 0 0 55 3 0 0 58
GeneDx 1 1 1 8 18 0 29
CeGaT Center for Human Genetics Tuebingen 4 2 10 6 1 0 23
Clinical Genetics, Academic Medical Center 0 0 2 1 6 0 9
Blueprint Genetics 1 5 3 0 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 7 0 0 9
OMIM 5 0 0 0 0 0 5
Molecular Genetics Laboratory, Institute for Ophthalmic Research 3 0 0 0 0 0 3
Eurofins Ntd Llc (ga) 0 3 0 0 0 0 3
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 2 1 0 0 0 0 3
Preventiongenetics, part of Exact Sciences 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Revvity Omics, Revvity Omics 1 0 0 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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