ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11326-4A>G

gnomAD frequency: 0.00001  dbSNP: rs727504876
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156243 SCV000205959 likely benign not specified 2013-12-26 criteria provided, single submitter clinical testing 11326-4A>G in intron 82 of RYR2: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. 11326-4A>G in intron 82 of RYR2 (allele frequency = n/a)
Invitae RCV002516330 SCV002333879 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2022-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444645 SCV002612183 benign Cardiovascular phenotype 2023-05-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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