ClinVar Miner

Variants in gene combination AVEN, 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 27 10 5 1 43

Condition and significance breakdown #

Total conditions: 4
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Condition uncertain significance likely benign benign not provided total
Epileptic encephalopathy 24 10 5 0 39
not provided 1 0 0 1 2
Primary amenorrhea 1 0 0 0 1
See cases 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter uncertain significance likely benign benign not provided total
Invitae 24 10 5 0 39
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 1 0 0 0 1
Johns Hopkins Genetic Resources Core Facility; Johns Hopkins University 0 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 1 0 0 0 1

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