ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease recessive intermediate C

Included ClinVar conditions (2):
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 not provided total
52 15 416 596 53 4 1126

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PLEKHG5 50 15 408 583 48 4 1099
LOC126805598, PLEKHG5 2 0 8 13 5 0 27

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 47 12 411 594 51 0 1115
Baylor Genetics 0 0 6 0 0 0 6
Genome-Nilou Lab 0 0 0 1 5 0 6
OMIM 4 0 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 1 1 1 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1

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