ClinVar Miner

Variants in gene TDRD7

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Minimum submission review status: Collection method:
Minimum conflict level:
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
6 2 147 47 32 216

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cataract 36 6 2 70 20 16 105
Inborn genetic diseases 0 0 83 7 0 90
not provided 0 0 14 20 23 56
not specified 0 0 1 2 6 9
TDRD7-related disorder 0 0 0 5 2 7

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 0 83 7 0 90
Labcorp Genetics (formerly Invitae), Labcorp 0 0 23 19 17 59
Illumina Laboratory Services, Illumina 0 0 49 2 8 59
GeneDx 0 0 5 16 22 43
Breakthrough Genomics, Breakthrough Genomics 0 0 2 7 11 20
PreventionGenetics, part of Exact Sciences 0 0 0 7 8 15
CeGaT Center for Human Genetics Tuebingen 0 0 7 2 0 9
OMIM 2 0 0 0 0 2
Institute of Reproductive and Stem Cell Engineering, Central South University 2 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 2
Molecular Medicine, University of Pavia 1 0 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Baylor Genetics 0 0 1 0 0 1
Mendelics 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 1

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