ClinVar Miner

Variants studied for Mental retardation, X-linked, syndromic, Turner type

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
13 16 6 0 1 32

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
HUWE1 13 16 6 1 32

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance benign total
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 3 14 0 1 18
OMIM 11 0 0 0 11
Baylor Miraca Genetics Laboratories, 0 1 1 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 1

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