ClinVar Miner

Variants studied for congenital myotonia

Included ClinVar conditions (8):
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 total
109 22 529 97 133 857

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HSPG2 9 3 296 37 88 428
CLCN1 99 16 191 49 32 359
HSPG2, LDLRAD2 0 0 36 7 13 56
RYR1 0 0 4 4 0 8
MYH7 1 1 0 0 0 2
TTN 0 1 1 0 0 2
DNA2 0 0 1 0 0 1
SCN4A 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 5 0 350 65 129 549
Invitae 71 11 160 32 18 292
GeneReviews 27 0 0 0 0 27
OMIM 26 0 0 0 0 26
Fulgent Genetics,Fulgent Genetics 5 0 7 0 0 12
Mendelics 2 2 2 2 2 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 8 0 0 8
CSER _CC_NCGL, University of Washington 0 0 4 4 0 8
Baylor Genetics 2 1 3 0 0 6
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 4 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
Center for Genetic Medicine Research,Children's National Medical Center 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 2 0 0 2
Broad Institute Rare Disease Group,Broad Institute 1 0 1 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 1
Neurology Laboratory,National Cheng Kung University Hospital 0 1 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 1

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