ClinVar Miner

Variants studied for acromesomelic dysplasia, Maroteaux type

Included ClinVar conditions (3):
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 not provided total
17 8 93 23 7 1 139

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NPR2 14 5 78 18 7 1 115
NPR2, SPAG8 3 3 15 5 0 0 24

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 3 3 45 19 4 0 74
Illumina Clinical Services Laboratory,Illumina 0 0 37 4 3 0 44
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 6 3 10 0 0 0 19
OMIM 5 0 0 0 0 0 5
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 5 0 0 0 0 0 5
Baylor Genetics 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1

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