ClinVar Miner

Variants in gene TRIP11

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
26 8 189 64 75 324

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Achondrogenesis, type IA 17 4 153 28 52 245
not provided 0 1 36 23 25 85
not specified 0 0 7 20 26 51
none provided 0 0 6 2 15 23
Goldblatt hypertension 11 3 0 0 0 11
Achondrogenesis 0 0 4 2 0 6

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 115 18 44 177
Invitae 7 0 46 35 32 120
GeneDx 0 1 6 20 44 71
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 15 5 25 45
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 27 4 1 32
OMIM 13 0 0 0 0 13
SIB Swiss Institute of Bioinformatics 5 4 0 0 0 9
Baylor Genetics 1 0 2 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 1 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 2
Undiagnosed Diseases Network,NIH 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Kasturba Medical College, Manipal University 0 0 1 0 0 1

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