ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5785T>A (p.Ser1929Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005233690 SCV005874478 uncertain significance not provided 2024-09-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 19926015)

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