ClinVar Miner

Variants studied for autosomal recessive limb-girdle muscular dystrophy type 2C

Included ClinVar conditions (1):
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
15 23 44 13 8 96

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 total
SGCG 13 23 43 6 6 84
SACS, SGCG 2 0 1 7 2 12

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 9 4 29 2 4 48
Illumina Clinical Services Laboratory,Illumina 0 0 13 10 3 26
Counsyl 0 17 2 1 0 20
OMIM 6 0 0 0 0 6
Athena Diagnostics Inc 2 0 0 0 1 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 1 0 0 0 1

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