ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.10230+20T>C (rs74323916)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000245983 SCV000053076 benign not specified 2019-08-26 criteria provided, single submitter clinical testing Variant summary: RYR2 c.10230+20T>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. The variant allele was found at a frequency of 0.011 in 222208 control chromosomes in the gnomAD database, including 19 homozygotes. The observed variant frequency is approximately 187 fold of the estimated maximal expected allele frequency for a pathogenic variant in RYR2 causing Arrhythmia phenotype (6e-05), strongly suggesting that the variant is benign. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign.
PreventionGenetics,PreventionGenetics RCV000245983 SCV000306015 likely benign not specified criteria provided, single submitter clinical testing

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