ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.14061G>A (p.Leu4687=) (rs201629205)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180758 SCV000233246 likely benign not specified 2015-02-05 criteria provided, single submitter clinical testing
Invitae RCV000549135 SCV000659838 benign RYR1-Related Disorders 2017-03-26 criteria provided, single submitter clinical testing
PreventionGenetics RCV000180758 SCV000852387 benign not specified 2018-01-23 criteria provided, single submitter clinical testing

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