ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.297G>A (p.Thr99=) (rs144241486)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000219628 SCV000614907 benign not specified 2017-06-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000219628 SCV000857688 likely benign not specified 2017-11-10 criteria provided, single submitter clinical testing
GeneDx RCV000219628 SCV000528066 likely benign not specified 2017-11-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000532644 SCV000659908 benign RYR1-Related Disorders 2017-10-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000219628 SCV000269775 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Thr99Thr in exon 4 of RYR1: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.6% (27/4406) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs144241486).
PreventionGenetics RCV000219628 SCV000304903 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000721482 SCV000852554 likely benign not provided 2018-03-29 criteria provided, single submitter clinical testing

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