ClinVar Miner

Variants in gene TRPS1

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
67 6 64 63 33 227

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Trichorhinophalangeal Syndrome 0 0 49 62 28 139
Trichorhinophalangeal dysplasia type I 44 1 0 0 0 45
Trichorhinophalangeal syndrome type 3; Trichorhinophalangeal dysplasia type I 18 1 1 0 4 24
not provided 10 2 11 0 1 24
not specified 0 0 2 0 6 8
Trichorhinophalangeal syndrome type 3 3 0 0 0 0 3
Inborn genetic diseases 1 0 1 0 0 2
See cases 1 0 0 1 0 2
Brachydactyly; Alopecia areata; Pear-shaped nose; Proportionate short stature 0 1 0 0 0 1
Short stature; Sparse and thin eyebrow; Hyperextensible skin; Craniosynostosis; High pitched voice; Mitral valve prolapse; Sparse hair 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 49 62 28 139
GeneReviews 36 0 0 0 0 36
Invitae 18 1 1 0 4 24
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 9 0 2 14
OMIM 12 0 0 0 0 12
GeneDx 6 1 2 1 0 10
PreventionGenetics 0 0 0 0 5 5
Ambry Genetics 1 0 1 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 1
ISCA site 6 1 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 0 1
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 1
Clinical Genomics Unit,Sheba Medical Center 1 0 0 0 0 1

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