ClinVar Miner

Variants studied for congenital myasthenic syndrome 6

Included ClinVar conditions (1):
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 not provided total
22 6 152 60 27 1 263

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHAT 21 6 152 60 26 1 261
CHAT, SLC18A3 0 0 0 0 1 0 1
LOC107303340, VHL 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 11 3 146 60 25 0 245
OMIM 11 0 0 0 0 0 11
Baylor Genetics 0 0 5 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 0 2
Mendelics 0 0 0 0 2 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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