ClinVar Miner

Variants in gene MED25

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Minimum submission review status: Collection method:
Minimum conflict level:
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
3 7 197 133 24 343

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Charcot-Marie-Tooth disease, type 2 0 0 175 77 17 269
Charcot-Marie-Tooth disease 1 1 19 39 11 70
not provided 0 3 11 36 0 49
Basel-Vanagaite-Smirin-Yosef syndrome 2 1 5 3 9 20
not specified 0 0 1 6 8 15
Charcot-Marie-Tooth disease type 2B2 1 0 2 0 1 3
Charcot-Marie-Tooth disease type 2B2; Basel-Vanagaite-Smirin-Yosef syndrome 0 2 1 0 0 3
Polyneuropathy 0 0 3 0 0 3
Neurodevelopmental disorder 0 1 1 0 0 2
Failure to thrive; Sensory neuropathy; Generalized hypotonia; Broad-based gait; Sensory ataxic neuropathy; Decreased body weight; Impaired distal proprioception; Sensory ataxia 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 175 100 17 292
Molecular Genetics Laboratory,London Health Sciences Centre 0 1 19 39 11 70
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 3 10 17
GeneDx 0 3 1 6 6 16
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 4 0 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 0 1 4
OMIM 1 0 2 0 0 3
Baylor Genetics 0 0 3 0 0 3
Institute of Human Genetics,University of Wuerzburg 0 0 3 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 1 0 0 2
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 1 1 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 2 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Mendelics 0 0 1 0 0 1
GeneReviews 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 0 0 1 0 0 1

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