ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11382C>T (p.Ala3794=)

gnomAD frequency: 0.00004  dbSNP: rs760519786
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Total submissions: 4
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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 RCV000607835 SCV000713658 likely benign not specified 2017-09-04 criteria provided, single submitter clinical testing p.Ala3794Ala in exon 83 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 2/23972 African c hromosomes and 1/126440 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs760519786).
Color Diagnostics, LLC DBA Color Health RCV001190501 SCV001358003 likely benign Cardiomyopathy 2019-10-09 criteria provided, single submitter clinical testing
Invitae RCV001400521 SCV001602325 likely benign Catecholaminergic polymorphic ventricular tachycardia 2021-10-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003326471 SCV004033022 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing RYR2: BP4, BP7

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