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 0 199 85 78 1 360

Condition and significance breakdown #

Total conditions: 4
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Condition uncertain significance likely benign benign not provided total
Epileptic encephalopathy 191 81 75 0 347
not provided 5 2 3 1 11
Inborn genetic diseases 4 1 0 0 5
not specified 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter uncertain significance likely benign benign not provided total
Invitae 191 81 75 0 347
Ambry Genetics 4 1 0 0 5
GeneDx 2 1 0 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 3 0 0 0 3
Fulgent Genetics 3 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 2 1 0 3
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 2 0 2
Johns Hopkins Genetic Resources Core Facility; Johns Hopkins University 0 0 0 1 1

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