ClinVar Miner

Variants in gene TTLL5

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 total
27 17 211 62 18 327

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 19 12 208 62 17 314
Retinal dystrophy 1 5 3 0 0 9
Cone-rod dystrophy 19 6 1 0 0 1 8
Retinitis pigmentosa 3 0 0 0 0 3
Choroidal dystrophy central areolar 1 0 0 0 0 1
Cone-rod dystrophy 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 16 6 203 61 12 298
CeGaT Praxis fuer Humangenetik Tuebingen 4 2 6 0 0 12
Blueprint Genetics 1 5 3 0 0 9
GeneDx 0 1 0 0 5 6
OMIM 5 0 0 0 0 5
Molecular Genetics Laboratory,Institute for Ophthalmic Research 3 0 0 0 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 3 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 2
Lineagen, Inc 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Human Genetics - Radboudumc,Radboudumc 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 0 1 1
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 1

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