ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11754C>A (p.Asn3918Lys)

dbSNP: rs886046278
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000400499 SCV000356435 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000282459 SCV000356436 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing

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