ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 2P

Coded as:
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
19 13 224 65 26 2 330

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LRSAM1 19 13 224 65 26 2 330

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 13 9 189 48 18 0 277
Illumina Clinical Services Laboratory,Illumina 0 0 43 25 14 0 82
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 3 4 0 7
OMIM 4 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 4 0 4
Baylor Genetics 1 0 2 0 0 0 3
Mendelics 0 0 1 0 1 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 0 2
Biochimie - Maladies Neurologiques Hereditaires,Hospices Civils de Lyon 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM 0 1 0 0 0 0 1

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