ClinVar Miner

Variants in gene PLEKHG5

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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 not provided total
23 7 373 170 77 2 593

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 15 1 263 98 25 1 402
not provided 1 3 80 32 21 0 134
Distal spinal muscular atrophy, autosomal recessive 4 1 1 78 12 34 1 126
not specified 0 0 7 70 28 0 103
none provided 0 0 5 4 7 0 16
Charcot-Marie-Tooth disease, recessive intermediate c 5 0 6 0 0 0 11
Distal spinal muscular atrophy 0 0 8 1 1 0 10
Juvenile amyotrophic lateral sclerosis 1 1 0 0 0 0 2
Hereditary motor neuron disease 0 0 1 0 0 0 1
Hereditary spastic paraplegia 0 1 0 0 0 0 1
Spinal muscular atrophy, facioscapulohumeral type 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 15 1 263 109 26 0 414
GeneDx 1 2 42 77 34 0 156
Illumina Clinical Services Laboratory,Illumina 0 0 85 13 35 0 133
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 25 2 15 0 42
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 12 6 11 0 29
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 19 2 0 0 22
Baylor Genetics 1 0 6 0 0 0 7
OMIM 5 0 0 0 0 0 5
Institute of Human Genetics,Cologne University 1 1 1 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 3
PreventionGenetics, PreventionGenetics 0 0 0 0 2 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 1 0 2
Inherited Neuropathy Consortium 0 1 1 0 0 0 2
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 1 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 1 0 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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