ClinVar Miner

Variants studied for Intellectual disability, autosomal recessive 42

Coded as:
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 total
24 12 111 99 26 266

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 24 12 110 99 26 265
GPI 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 11 4 101 97 26 239
OMIM 7 0 0 0 0 7
Baylor Genetics 2 0 5 0 0 7
Mendelics 0 2 0 1 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 1 1 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 2 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 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
Revvity Omics, Revvity 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 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
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 1
SC Genetica Medica, ASST Santi Paolo e Carlo 0 1 0 0 0 1

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