ClinVar Miner

Variants in gene RYR3

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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 not provided total
0 0 384 232 94 3 706

Condition and significance breakdown #

Total conditions: 5
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Condition uncertain significance likely benign benign not provided total
Epileptic encephalopathy 371 141 90 0 602
not provided 12 89 4 3 108
Inborn genetic diseases 4 1 0 0 5
Flexion contracture 4 0 0 0 4
not specified 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter uncertain significance likely benign benign not provided total
Invitae 371 228 91 0 690
Ambry Genetics 4 1 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 0 0 0 4
GeneDx 2 1 0 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 3 0 0 0 3
Fulgent Genetics,Fulgent Genetics 3 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 2 1 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 3 0 0 0 3
OMIM 2 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 2 0 2
GenomeConnect, ClinGen 0 0 0 2 2
Lineagen, Inc 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 1
Johns Hopkins Genetic Resources Core Facility; Johns Hopkins University 0 0 0 1 1

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