ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2334C>T (p.Asn778=)

gnomAD frequency: 0.00001  dbSNP: rs1282599604
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002068729 SCV002408664 likely benign Arrhythmogenic right ventricular dysplasia 11 2023-06-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002068729 SCV002804790 likely benign Arrhythmogenic right ventricular dysplasia 11 2021-12-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003936266 SCV004749905 likely benign DSC2-related condition 2019-07-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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