ClinVar Miner

Variants studied for diastrophic dysplasia

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
129 79 249 304 31 10 740

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
SLC26A2 129 79 242 304 31 10 733
LOC129994976, SLC26A2 0 0 7 0 0 0 7

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 125 12 135 290 12 0 574
Illumina Laboratory Services, Illumina 0 0 114 12 26 0 152
Fulgent Genetics, Fulgent Genetics 8 28 2 2 0 0 40
Counsyl 1 22 0 0 0 0 23
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 18 0 0 0 0 19
GeneReviews 0 0 0 0 0 10 10
Genome-Nilou Lab 0 0 6 1 0 0 7
OMIM 6 0 0 0 0 0 6
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 2 2 1 0 0 0 5
Myriad Genetics, Inc. 3 2 0 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 0 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 2 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1

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