ClinVar Miner

Variants from Center for Genetic Medicine Research, Children's National Medical Center

Location: United States  Primary collection method: research
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
0 33 41 0 0 74

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination likely pathogenic uncertain significance total
TTN 5 11 16
RYR1 4 1 5
COL6A2 1 3 4
COL6A3 1 3 4
LAMA2 1 3 4
ACTA1 2 1 3
DYSF 3 0 3
POMT2 2 1 3
ANO5 2 0 2
COL6A1 0 2 2
DES 2 0 2
DMD 1 1 2
DNM2 0 2 2
FKRP 1 1 2
ITGA7 0 2 2
LMNA 1 1 2
MYH7 1 1 2
NEB 1 1 2
CAPN3, LOC126862115 1 0 1
CAV3 1 0 1
CAV3, OXTR 0 1 1
DYNC1H1 1 0 1
LOC126806426, TTN 0 1 1
LOC126806427, LOC129935182, TTN 0 1 1
LOC126806429, TTN 0 1 1
MYOT, PKD2L2-DT 0 1 1
NEB, RIF1 0 1 1
SELENON 0 1 1
TPM2 1 0 1
TPM3 1 0 1

Condition and significance breakdown #

Total conditions: 24
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Condition likely pathogenic uncertain significance total
not specified 0 41 41
Central core myopathy 4 0 4
Congenital muscular dystrophy 3 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2B 2 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2L 2 0 2
Bethlem myopathy 1A 2 0 2
Congenital myopathy 2 0 2
Desmin-related myofibrillar myopathy 2 0 2
Actin accumulation myopathy 1 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2A 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2I 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2J 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2N 1 0 1
Congenital muscular dystrophy with rigid spine 1 0 1
Congenital myopathy 23 1 0 1
Congenital myopathy 4B, autosomal recessive 1 0 1
Duchenne muscular dystrophy 1 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 1 0 1
Merosin deficient congenital muscular dystrophy 1 0 1
Miyoshi muscular dystrophy 1 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 1 0 1
Nemaline myopathy 2 1 0 1
Rippling muscle disease 2 1 0 1

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