ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease axonal type 2O

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
8 9 552 399 87 1 1007

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
DYNC1H1 8 9 551 399 87 1 1006
DYNC1H1, PPP2R5C 0 0 1 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 6 1 443 369 71 0 890
Illumina Clinical Services Laboratory,Illumina 0 0 92 44 43 0 179
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 0 0 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 7 0 1 0 9
Mendelics 0 3 3 1 0 0 7
Fulgent Genetics,Fulgent Genetics 1 1 4 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 0 3 0 0 0 5
Baylor Genetics 0 0 3 0 0 0 3
Clinical Genetics laboratory, University of Goettingen 0 0 2 0 0 0 2
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 0 0 2 0 0 0 2
OMIM 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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