ClinVar Miner

Variants in gene combination POMGNT1, TSPAN1

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Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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
41 78 176 81 21 342

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 12 5 86 20 12 128
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 15 4 59 40 6 124
Muscle eye brain disease 4 70 19 3 1 94
not specified 0 0 10 29 11 44
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 2 4 28 2 1 36
Congenital Muscular Dystrophy, alpha-dystroglycan related 0 1 22 4 1 28
Retinitis pigmentosa 76 8 4 1 0 0 13
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 10 0 0 0 0 10
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 5 4 2 0 0 10
Muscle eye brain disease; Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3; Retinitis pigmentosa 76 2 0 4 0 0 6
POMGNT1-Related Disorders 2 1 3 0 0 6
Limb-Girdle Muscular Dystrophy, Recessive 0 0 2 0 0 2
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 1 0 0 0 0 1
Inborn genetic diseases 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 15 4 59 55 6 139
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 80 0 5 89
Counsyl 6 45 18 2 0 71
GeneDx 8 1 5 21 12 47
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 34 0 0 0 35
Illumina Clinical Services Laboratory,Illumina 2 2 28 4 1 32
OMIM 19 0 0 0 0 19
Athena Diagnostics Inc 1 1 5 4 4 15
PreventionGenetics,PreventionGenetics 0 0 0 7 7 14
Genetic Services Laboratory, University of Chicago 2 0 7 2 1 12
CeGaT Praxis fuer Humangenetik Tuebingen 4 2 2 0 0 8
Fulgent Genetics,Fulgent Genetics 2 0 4 0 0 6
Mendelics 0 2 0 1 1 4
Baylor Genetics 1 0 1 1 0 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 1 0 0 0 2
Ambry Genetics 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1

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