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
9 4 201 108 40 1 315

Condition and significance breakdown #

Total conditions: 7
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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 2 1 97 37 23 0 160
not specified 0 0 6 70 28 0 102
Distal spinal muscular atrophy 0 0 68 19 7 0 94
not provided 1 2 68 1 3 0 75
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
Spinal muscular atrophy, facioscapulohumeral type 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 1 97 37 23 0 160
GeneDx 1 1 42 68 17 0 129
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 1 4 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 8 1 0 0 10
OMIM 5 0 0 0 0 0 5
Institute of Human Genetics,Cologne University 1 1 1 0 0 0 3
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 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

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