ClinVar Miner

Variants in gene GFPT1

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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
32 18 262 190 74 550

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Congenital myasthenic syndrome 12 30 11 234 153 49 465
not provided 3 7 12 35 30 86
not specified 0 0 10 4 10 23
Congenital Myasthenic Syndrome, Recessive 0 0 10 3 0 13
Inborn genetic diseases 0 0 12 0 0 12
GFPT1-related condition 1 0 0 6 0 7
Congenital myasthenic syndrome 2 3 0 0 0 5
Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 12 1 0 1 0 0 2
Abnormality of the musculature 1 0 0 0 0 1
Congenital myasthenic syndrome 4C 1 0 0 0 0 1
GFPT1-related myasthenic syndrome 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 21 5 116 144 22 308
Illumina Laboratory Services, Illumina 1 1 126 15 30 173
GeneDx 0 3 5 32 32 72
PreventionGenetics, part of Exact Sciences 1 0 0 6 8 15
Ambry Genetics 0 0 12 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 5 0 2 11
OMIM 8 0 0 0 0 8
CeGaT Center for Human Genetics Tuebingen 2 1 2 3 0 8
Genetic Services Laboratory, University of Chicago 0 0 3 2 2 7
Athena Diagnostics Inc 0 1 0 0 3 4
3billion 1 2 1 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Baylor Genetics 0 1 1 0 0 2
Revvity Omics, Revvity 1 0 1 0 0 2
Mendelics 1 0 1 0 0 2
Eurofins Ntd Llc (ga) 0 0 1 0 1 2
Fulgent Genetics, Fulgent Genetics 1 0 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 2 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 2 0 0 0 2
Genetic Diseases Diagnostic Center, Koc University Hospital 0 2 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 1
Neurology Laboratory, The First Affiliated Hospital of Nanchang University 1 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 1

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