ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.5665GAG[2] (p.Glu1891del) (rs559371263)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000177830 SCV000229770 likely benign not specified 2015-02-18 criteria provided, single submitter clinical testing
Invitae RCV001088059 SCV000777639 benign RYR1-Related Disorders 2020-10-25 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658832 SCV000780628 likely benign not provided 2020-05-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000658832 SCV000852689 uncertain significance not provided 2015-07-21 criteria provided, single submitter clinical testing
GeneDx RCV000658832 SCV001821142 likely benign not provided 2021-07-07 criteria provided, single submitter clinical testing

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