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 1 673 335 94 5 1097

Condition and significance breakdown #

Total conditions: 8
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Condition likely pathogenic uncertain significance likely benign benign not provided total
Epileptic encephalopathy 0 647 276 90 0 1012
not provided 0 15 91 4 5 115
Inborn genetic diseases 0 8 0 0 0 8
Seizures 0 6 0 0 0 6
Flexion contracture 0 4 0 0 0 4
Premature ovarian failure 1 2 0 0 0 3
See cases 0 3 0 0 0 3
not specified 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 646 330 91 0 1067
Ambry Genetics 0 8 0 0 0 8
New York Genome Center 0 7 0 0 0 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 4 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 1 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 4 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 4 4
GeneDx 0 2 1 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 3 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 3 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 2 1 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 1 0 3
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 1 2 0 0 0 3
OMIM 0 2 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 2 0 2
Lineagen, Inc 0 1 0 0 0 1
Johns Hopkins Genetic Resources Core Facility; Johns Hopkins University 0 0 0 0 1 1

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