ClinVar Miner

Variants studied for opsismodysplasia

Included ClinVar conditions (1):
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
21 7 15 2 4 47

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
INPPL1 18 5 15 2 4 42
INPPL1, LOC130006327 2 1 0 0 0 3
INPPL1, LOC130006328 1 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 9 0 0 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 1 2 7
Revvity Omics, Revvity 3 1 3 0 0 7
University of Washington Center for Mendelian Genomics, University of Washington 7 0 0 0 0 7
Baylor Genetics 0 2 1 0 0 3
Cormier-Daire Lab, IMAGINE 3 0 0 0 0 3
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
DASA 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Mendelics 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 0 1 0 0 1

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