ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.9723C>T (p.Pro3241=) (rs199828145)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153870 SCV000203464 uncertain significance not provided 2014-04-10 criteria provided, single submitter clinical testing
Invitae RCV001078640 SCV001092220 benign RYR1-Related Disorders 2020-02-18 criteria provided, single submitter clinical testing

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