ClinVar Miner

Variants studied for Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5

Coded as:
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
1 0 0 0 2 3

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic benign total
FKRP 1 2 3

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic benign total
Athena Diagnostics Inc 0 2 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 1

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