ClinVar Miner

Variants studied for Multiple congenital anomalies-hypotonia-seizures syndrome 3

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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
18 9 93 100 13 227

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
PIGT 18 9 93 96 12 222
MIR6812, PIGT 0 0 0 4 1 5

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 12 2 86 100 11 211
OMIM 8 0 0 0 0 8
Mendelics 1 2 0 1 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 0 0 4
Genome-Nilou Lab 0 0 0 0 4 4
Baylor Genetics 0 0 3 0 0 3
3billion, Medical Genetics 3 0 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 0 0 2
MGZ Medical Genetics Center 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 2
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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