ClinVar Miner

Variants studied for congenital myasthenic syndrome 20

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
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
6 5 245 161 9 422

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC5A7 5 5 242 161 9 418
CCDC138, EDAR, GCC2, LIMS1, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 0 0 2 0 0 2
CCDC138, EDAR, GCC2, LIMS1, LINC01593, LINC01594, LOC107305685, LOC112695112, LOC122817721, LOC122817722, LOC126806301, LOC126806302, LOC126806303, LOC129388897, LOC129388898, LOC129934519, LOC129934520, LOC129934521, LOC129934522, LOC129934523, LOC129934524, LOC129934525, LOC129934526, LOC129934527, LOC129934528, LOC129934529, RANBP2, SLC5A7, SULT1C2, SULT1C3, SULT1C4 0 0 1 0 0 1
SLC22A5 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 244 161 8 413
OMIM 5 0 0 0 0 5
Ricardo Maselli Laboratory, University of California Davis 1 3 1 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 3 0 0 3
Baylor Genetics 0 0 1 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University 0 1 0 0 0 1

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