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
5 2 984 524 129 10 1576

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Epileptic encephalopathy 0 0 660 450 129 0 1238
not specified 0 0 387 16 0 0 403
not provided 0 0 71 81 69 10 221
RYR3-related disorder 0 0 7 41 14 0 62
Congenital myopathy 20 4 0 17 0 0 0 20
RYR3-related Epileptic encephalopathy 0 0 9 0 0 0 9
Inborn genetic diseases 0 0 7 0 0 0 7
See cases 0 0 6 0 0 0 6
Flexion contracture 0 0 4 0 0 0 4
Premature ovarian failure 0 1 2 0 0 0 3
Hydrops fetalis 1 0 0 0 0 0 1
Monomelic amyotrophy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 659 471 129 0 1259
Ambry Genetics 0 0 382 11 0 0 393
Breakthrough Genomics, Breakthrough Genomics 0 0 14 19 67 0 100
CeGaT Center for Human Genetics Tuebingen 0 0 35 44 1 0 80
PreventionGenetics, part of Exact Sciences 0 0 7 41 14 0 62
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 13 4 0 0 17
New York Genome Center 0 0 16 0 0 0 16
GeneDx 0 0 2 1 10 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 1 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Revvity Omics, Revvity 0 0 5 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 5 0 0 0 5
OMIM 4 0 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 4 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 4
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 4 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 1 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 1 0 3
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 1 2 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 3 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Johns Hopkins Genetic Resources Core Facility; Johns Hopkins University 0 0 0 0 0 1 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Department of Research, Sir Ganga Ram Hospital 0 1 0 0 0 0 1

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