ClinVar Miner

Variants studied for congenital myasthenic syndrome 12

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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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 total
14 7 160 24 32 232

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GFPT1 14 6 160 24 32 231
FAT1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 116 12 30 159
Invitae 7 3 45 13 5 73
OMIM 8 0 0 0 0 8
Genetic Diseases Diagnostic Center,Koc University Hospital 0 2 0 0 0 2
Hadassah Hebrew University Medical Center 0 1 0 0 0 1

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