ClinVar Miner

Variants studied for congenital myasthenic syndrome 1A

Included ClinVar conditions (2):
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
19 0 1 0 0 20

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic uncertain significance total
CHRNA1 16 1 17
CHRND 2 0 2
C17orf107, CHRNE 1 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic uncertain significance total
OMIM 14 0 14
Mayo Muscle Lab, Mayo Clinic 3 0 3
Neuromuscular Disease Laboratory,Mayo Clinic College of Medicine 1 0 1
Department of Neurology,Children's Hospital of Fudan University 1 0 1
TIDEX, University of British Columbia 0 1 1

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