ClinVar Miner

Variants studied for King-Denborough syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
32 67 434 38 45 1 613

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 not provided total
RYR1 30 66 418 34 38 1 583
LOC126862902, RYR1 2 1 6 1 6 0 16
LOC129391106, RYR1 0 0 6 3 1 0 10
LOC130064357, RYR1 0 0 4 0 0 0 4

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 24 50 400 38 24 0 536
Department of Pathology and Laboratory Medicine, Sinai Health System 3 4 25 0 0 0 32
Genome-Nilou Lab 0 0 0 0 31 0 31
Juno Genomics, Hangzhou Juno Genomics, Inc 0 4 7 0 0 0 11
OMIM 4 0 0 0 0 0 4
Solve-RD Consortium 0 4 0 0 0 0 4
3billion 0 2 1 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 0 2 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 2 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 0 2
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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