ClinVar Miner

Variants in gene combination CHRNA4, LOC100130587

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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
0 0 8 15 6 25

Condition and significance breakdown #

Total conditions: 5
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Condition uncertain significance likely benign benign total
not specified 1 12 4 16
Autosomal dominant nocturnal frontal lobe epilepsy 5 2 2 9
not provided 4 0 2 6
Seizures 1 2 1 4
Epilepsy, nocturnal frontal lobe, type 1 0 0 1 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter uncertain significance likely benign benign total
GeneDx 2 11 5 18
Invitae 5 2 2 9
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 4 5
Ambry Genetics 1 2 1 4
Athena Diagnostics Inc 1 0 1 2
Genetic Services Laboratory, University of Chicago 1 1 0 2
PreventionGenetics 0 0 2 2

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