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
33 73 137 38 12 257

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 10 4 84 2 3 102
Muscle eye brain disease 5 67 18 2 0 88
not specified 0 0 11 29 11 45
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 3 2 24 8 5 42
Limb-Girdle Muscular Dystrophy, Recessive 0 0 13 1 0 14
Congenital Muscular Dystrophy, alpha-dystroglycan related 0 1 11 1 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 0 1 0 0 6
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 2 0 0 5
Retinitis pigmentosa 76 5 0 0 0 0 5
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 2 0 1 0 0 3
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 1 0 0 0 0 1
Inborn genetic diseases 0 1 0 0 0 1
Muscle eye brain disease; Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 0 0 1 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: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 80 0 5 89
Counsyl 5 42 17 2 0 66
Invitae 3 2 24 8 5 42
GeneDx 8 1 5 20 4 38
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 34 0 0 0 35
OMIM 19 0 0 0 0 19
Illumina Clinical Services Laboratory,Illumina 2 2 15 1 0 17
PreventionGenetics 0 0 0 7 7 14
Genetic Services Laboratory, University of Chicago 2 0 7 2 1 12
Athena Diagnostics Inc 0 1 3 2 3 9
Fulgent Genetics 2 0 4 0 0 6
Baylor Miraca Genetics Laboratories, 0 0 2 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 2 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 1 1 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 0 1

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