ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3283C>A (p.His1095Asn)

gnomAD frequency: 0.00012  dbSNP: rs140193292
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001300111 SCV001489235 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002447284 SCV002612524 likely benign Cardiovascular phenotype 2022-03-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002493584 SCV002800729 uncertain significance Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 2021-10-04 criteria provided, single submitter clinical testing

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