ClinVar Miner

Variants studied for Congenital microvillous atrophy

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
31 23 247 19 62 373

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MYO5B, SNHG22 3 3 143 6 27 181
MYO5B 28 20 94 13 32 179
LOC130062487, MYO5B 0 0 8 0 1 9
LOC126862745, MYO5B, SNHG22 0 0 1 0 2 3
LOC126862746, MYO5B 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 240 18 58 316
OMIM 17 0 0 0 0 17
Aleixo Muise Laboratory, Hospital For Sick Children 5 8 0 0 0 13
Genome-Nilou Lab 0 0 0 0 10 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 3 0 0 6
Mendelics 3 2 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 4 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 4
Baylor Genetics 1 0 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 1 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 1 0 0 0 1
3billion, Medical Genetics 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 1

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