ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14756+4A>T

dbSNP: rs2102947751
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753378 SCV002004984 uncertain significance not provided 2020-01-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect

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