ClinVar Miner

Variants studied for Myasthenic syndrome, congenital, 8

Coded as:
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
5 1 135 66 60 266

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
AGRN 4 1 135 66 60 265
ACAP3, AGRN, B3GALT6, C1QTNF12, C1orf159, INTS11, LINC01342, LINC01786, LOC100288175, LOC106783496, LOC110599576, LOC112577469, MIR200A, MIR200B, MIR429, MIR6726, MIR6727, PUSL1, RNF223, SCNN1D, SDF4, SNORD167, TNFRSF18, TNFRSF4, TTLL10, UBE2J2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 0 133 66 60 261
OMIM 3 0 0 0 0 3
Fulgent Genetics 0 0 2 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 1 0 0 0 1

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