ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.749T>C (p.Phe250Ser) (rs746173561)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Bioinformatics,Sinopath Diagnosis RCV000626328 SCV000693676 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 11 2018-03-02 criteria provided, single submitter clinical testing We detected the variant in two unrelated patients with ARVD11: a compound heterozygote with c.743_748delAAGTAT, and a homozygote. This variant was not detected in about 7000 individuals without any related phenotype.

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