ClinVar Miner

Variants from Lyon Laboratory, Cold Spring Harbor Laboratory

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
2 0 3 0 0 5

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic uncertain significance total
​intergenic 0 1 1
ALG1L2 0 1 1
ANKRD11 1 0 1
LAMB3 0 1 1
MYBBP1A 0 1 1
SCN8A 1 0 1

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic uncertain significance total
Autistic disorder of childhood onset 0 3 3
Global developmental delay; Developmental regression; Developmental stagnation at onset of seizures; Generalized tonic seizures; Intellectual disability, severe; Epileptic encephalopathy 1 0 1
KBG syndrome 1 0 1

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