ClinVar Miner

Variants in gene combination SACS, SGCG

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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
3 0 2 9 6 15

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic uncertain significance likely benign benign total
Severe autosomal recessive muscular dystrophy of childhood - North African type 2 1 7 3 13
Charlevoix-Saguenay spastic ataxia 0 0 8 1 9
Limb-Girdle Muscular Dystrophy, Recessive 0 0 7 2 9
Sarcoglycanopathy 0 0 0 5 5
not specified 0 0 0 4 4
Spastic paraplegia 2 1 0 0 3
not provided 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 9 6 10
Invitae 3 2 0 2 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 4 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 3 3
GeneDx 0 0 0 2 2
PreventionGenetics,PreventionGenetics 0 0 0 2 2
Athena Diagnostics Inc 0 0 0 1 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 1
Natera, Inc. 0 0 0 1 1
Mendelics 0 0 0 1 1

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