ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12325A>G (p.Met4109Val) (rs730880196)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242944 SCV000319049 likely pathogenic Cardiovascular phenotype 2017-09-19 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Confirmed de novo alteration in the setting of a new disease (appropriate phenotype) in the family
Blueprint Genetics RCV000157465 SCV000207209 likely pathogenic Catecholaminergic polymorphic ventricular tachycardia type 1 2014-07-21 no assertion criteria provided clinical testing

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