ClinVar Miner

Variants in gene PLEKHG5

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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 not provided total
11 4 240 153 62 2 411

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 1 2 76 75 41 0 178
Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 5 1 135 10 4 1 155
not specified 0 0 8 71 29 0 105
Distal spinal muscular atrophy 0 0 68 19 7 0 94
Charcot-Marie-Tooth disease, recessive intermediate c 4 0 0 0 0 0 4
Distal spinal muscular atrophy, autosomal recessive 4 1 1 0 0 0 1 2
Genetic motor neuron disease 0 0 1 0 0 0 1
Spinal muscular atrophy, facioscapulohumeral type 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 5 1 135 76 26 0 243
GeneDx 1 1 42 77 36 0 157
Illumina Clinical Services Laboratory,Illumina 0 0 68 19 7 0 94
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 25 2 15 0 42
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 17 1 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 8 3 6 0 17
OMIM 5 0 0 0 0 0 5
Institute of Human Genetics,Cologne University 1 1 1 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
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
Inherited Neuropathy Consortium 0 0 1 0 0 0 1

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