ClinVar Miner

Variants studied for Familial infantile myasthenia

Coded as:
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Gene type:
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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
30 13 221 142 43 1 442

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 28 13 220 142 42 1 438
CHAT, SLC18A3 1 0 1 0 1 0 3
LOC107303340, VHL 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 19 8 209 142 37 0 415
OMIM 11 0 0 0 0 0 11
Genome-Nilou Lab 0 0 0 0 8 0 8
Baylor Genetics 0 0 5 0 0 0 5
PerkinElmer Genomics 1 3 0 0 0 0 4
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
Broad Institute Rare Disease Group, Broad Institute 0 0 2 0 0 0 2
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 2 0 0 0 0 0 2
3billion 0 0 2 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 1 0 0 0 1
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
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1

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