ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.3418C>T (p.Arg1140Cys) (rs193922776)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000456108 SCV000540256 uncertain significance not specified 2016-12-21 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant has been reported in 1 paper in HGMD in an unspecified number of malignant hyperthermia patients (classified as DM). This variant is present in ClinVar with no interpretation. The variant has a Max MAF of 0.006% in ExAC (1 allele) and 0.01% in gnomAD (4 alleles). Variant is not present in emhg.org database.
Leiden Muscular Dystrophy (RYR1) RCV000119610 SCV000154517 not provided not provided no assertion provided not provided

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