ClinVar Miner

Variants in gene GFPT1

Minimum submission review status: Collection method:
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Gene type:
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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
12 7 112 24 34 179

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Congenital Myasthenic Syndrome, Recessive 0 0 85 14 12 111
Congenital myasthenic syndrome 12 12 4 24 5 5 48
not provided 0 3 2 1 15 21
not specified 0 0 4 4 9 16
Congenital myasthenic syndrome 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 86 14 12 113
Invitae 5 1 23 5 5 39
GeneDx 0 2 0 4 18 24
OMIM 8 0 0 0 0 8
PreventionGenetics 0 0 0 0 8 8
Genetic Services Laboratory, University of Chicago 0 0 3 2 2 7
Athena Diagnostics Inc 0 0 0 0 2 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 1 0 1 2
Genetic Diseases Diagnostic Center,Koc University Hospital 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 1

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