ClinVar Miner

Variants in gene ADAMTS17

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
8 0 144 37 47 234

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic uncertain significance likely benign benign total
Weill-Marchesani syndrome 4 5 135 31 41 211
not provided 3 7 3 6 19
See cases 0 2 3 0 5

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 134 31 41 205
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 10 10
Quest Diagnostics Nichols Institute San Juan Capistrano 0 4 2 0 6
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 6 6
OMIM 5 0 0 0 5
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 1 2 0 3
Lineagen Inc. 3 0 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 2 0 0 2
ISCA site 1 0 1 1 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 0 0 2

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