ClinVar Miner

Variants studied for Intellectual disability, X-linked 41

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
8 4 10 1 1 24

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
GDI1 7 4 10 1 1 23
ATP6AP1, ATP6AP1-DT, CTAG1A, DNASE1L1, EMD, FAM223A, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, LOC107181288, LOC107988021, LOC107988022, LOC107988032, LOC107988033, LOC108281126, LOC121627985, LOC121853072, LOC129929052, LOC130068856, LOC130068857, LOC130068858, LOC130068859, LOC130068860, LOC130068861, LOC130068862, LOC130068863, LOC130068864, LOC130068865, LOC130068866, LOC130068867, LOC130068868, LOC130068869, LOC130068870, LOC130068871, LOC130068872, LOC130068873, LOC130068874, LOC130068875, LOC130068876, LOC130068877, LOC130068878, LOC130068879, LOC130068880, LOC130068881, MIR6858, PLXNA3, RPL10, SLC10A3, SNORA70, TAFAZZIN, UBL4A 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 4 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 4
Revvity Omics, Revvity 0 0 2 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 2
3billion 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Research Institute of Medical Genetics, Tomsk National Research Medical Center of Russian Academy of Sciences 1 0 0 0 0 1

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