ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12365_12367del (p.Ala4122del)

dbSNP: rs1695350400
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197108 SCV001367744 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PM4,PP4.

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