ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11968G>A (p.Val3990Ile)

gnomAD frequency: 0.00001  dbSNP: rs1210103464
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000590912 SCV000700101 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-10-01 criteria provided, single submitter research Found in patient having exome sequencing for an unrelated indication. No known history of arrhythmogenic right ventricular dysplasia. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.
Fulgent Genetics, Fulgent Genetics RCV002497241 SCV002776016 uncertain significance Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 2021-11-14 criteria provided, single submitter clinical testing

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