ClinVar Miner

Variants studied for Sucrase-isomaltase deficiency

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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
15 18 180 61 22 286

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SI 15 18 180 61 22 286

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 3 0 124 11 16 154
Fulgent Genetics, Fulgent Genetics 4 11 64 51 3 133
Genome-Nilou Lab 0 0 0 0 10 10
Revvity Omics, Revvity Omics 1 4 4 0 0 9
OMIM 8 0 0 0 0 8
Baylor Genetics 0 2 1 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 0 0 3
Mendelics 1 0 1 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 0 1 1 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 1 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 1

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