ClinVar Miner

Variants studied for Intellectual disability, autosomal recessive 42

Coded as:
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
23 13 112 117 27 285

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 total
PGAP1 23 13 111 117 27 284
GPI 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 11 4 102 115 27 259
Baylor Genetics 2 0 5 0 0 7
OMIM 7 0 0 0 0 7
Fulgent Genetics, Fulgent Genetics 0 0 1 1 1 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 0 3
Mendelics 0 2 0 1 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 3
Centogene AG - the Rare Disease Company 0 0 2 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
SC Genetica Medica, ASST Santi Paolo e Carlo 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1

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