ClinVar Miner

Variants studied for 3M syndrome 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
21 35 160 29 52 291

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
OBSL1 21 35 160 28 52 290
LOC129935660, OBSL1 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 137 20 45 202
Fulgent Genetics, Fulgent Genetics 3 15 7 4 2 31
Genome-Nilou Lab 0 0 0 0 21 21
3billion 4 1 0 4 0 9
Neuberg Centre For Genomic Medicine, NCGM 2 1 5 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 5 0 0 7
OMIM 6 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 4 0 0 0 6
Baylor Genetics 2 0 3 0 0 5
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 5 0 0 0 5
Revvity Omics, Revvity 1 1 3 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 1 0 4
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 2 1 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 2 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 1 0 0 3
Mendelics 0 1 1 0 1 3
Suma Genomics 2 0 1 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 2
Pediatric Endocrinology, Ankara Etlik City Hospital 2 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Department of Molecular Biology and Genetics, Acibadem University 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 1
Narges Medical Genetic and Prenatal Diagnosis Lab 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1

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