ClinVar Miner

Variants in gene combination LOC130004408, TCTN3

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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
8 6 28 38 4 75

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Orofacial-digital syndrome IV; Joubert syndrome 18 8 4 22 32 4 68
not provided 0 2 4 3 3 10
Inborn genetic diseases 0 0 5 1 0 6
not specified 0 0 1 5 2 6
Joubert syndrome and related disorders 1 2 0 0 0 3
Joubert syndrome 18 1 2 0 0 0 2
Ciliopathy 0 1 0 0 0 1
Long QT syndrome 0 0 0 1 0 1
TCTN3-related disorder 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 8 1 22 32 4 67
GeneDx 0 2 4 4 2 12
Ambry Genetics 0 0 5 1 0 6
Fulgent Genetics, Fulgent Genetics 1 4 0 0 0 5
PreventionGenetics, part of Exact Sciences 0 1 0 1 2 4
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 1 4
Genetic Services Laboratory, University of Chicago 0 0 1 2 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 3
CeGaT Center for Human Genetics Tuebingen 0 0 0 0 2 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 1
UW Hindbrain Malformation Research Program, University of Washington 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Medical Research Institute, Tokyo Medical and Dental University 0 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Eurofins-Biomnis 0 1 0 0 0 1

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