ClinVar Miner

Variants studied for congenital myotonia

Included ClinVar conditions (7):
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
73 16 295 85 44 484

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 7 1 193 38 18 257
CLCN1 66 11 79 39 22 188
HSPG2, LDLRAD2 0 0 19 4 4 27
RYR1 0 0 4 4 0 8
ACTA1 0 1 0 0 0 1
MYH7 0 1 0 0 0 1
SCN4A 0 1 0 0 0 1
TTN 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 5 0 219 69 27 320
Invitae 32 8 58 19 17 134
GeneReviews 27 0 0 0 0 27
OMIM 26 0 0 0 0 26
Fulgent Genetics 5 0 7 0 0 12
CSER_CC_NCGL; University of Washington Medical Center 0 0 4 4 0 8
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 6 0 0 6
Baylor Miraca Genetics Laboratories, 1 1 2 0 0 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 4 0 0 4
Center for Genetic Medicine Research,Children's National Medical Center 0 2 0 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 0 1 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 1
Mendelics 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 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

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