ClinVar Miner

Variants in gene POMK

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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 not provided total
29 8 148 95 13 1 268

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency 23 0 119 81 7 1 230
not provided 2 4 36 23 10 0 71
Inborn genetic diseases 0 0 26 4 0 0 30
not specified 0 0 5 8 3 0 16
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 6 1 5 0 1 0 13
POMK-related disorder 0 2 1 7 1 0 11
Limb-girdle muscular dystrophy due to POMK deficiency 1 1 2 0 1 0 5

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 23 0 119 81 7 0 230
GeneDx 1 3 17 16 10 0 47
Ambry Genetics 0 0 26 4 0 0 30
Revvity Omics, Revvity 1 1 21 0 0 0 23
CeGaT Center for Human Genetics Tuebingen 0 0 2 11 1 0 14
PreventionGenetics, part of Exact Sciences 0 2 1 8 2 0 13
Breakthrough Genomics, Breakthrough Genomics 0 0 0 6 5 0 11
Genetic Services Laboratory, University of Chicago 0 0 3 4 0 0 7
OMIM 5 0 0 0 0 0 5
Baylor Genetics 0 1 2 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 2 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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