ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7443A>G (p.Gln2481=) (rs759314800)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249314 SCV000319142 likely benign Cardiovascular phenotype 2013-11-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769794 SCV000901220 uncertain significance Cardiomyopathy 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000537981 SCV000637610 likely benign Catecholaminergic polymorphic ventricular tachycardia 2017-03-06 criteria provided, single submitter clinical testing

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