ClinVar Miner

Variants studied for Mental retardation, X-linked 1

Coded as:
Minimum submission review status: Collection method:
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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
37 7 58 36 27 1 163

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
IQSEC2 37 7 57 36 27 1 162
IQSEC2, SMC1A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 19 3 50 36 27 0 135
OMIM 7 0 0 0 0 0 7
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 1 1 0 0 0 4
Mendelics 2 0 1 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 1 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Biochemical and Molecular Genetics Department, Hospital Clinic of Barcelona 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 0 1

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