Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostics Services |
RCV003334464 | SCV004042829 | likely pathogenic | Arrhythmogenic right ventricular dysplasia 13 | 2023-10-16 | criteria provided, single submitter | clinical testing | The c.2159+2T>C variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been published in literature nor reported to the clinical databases like ClinVar, Human Genome Mutation Database (HGMD) or OMIM in any affected individuals. In-silico pathogenicity prediction programs like Human Splicing Finder 3.1 (HSF3.1), MutationTaster2, CADD, Varsome, Franklin etc predicted this variant to be likely deleterious by affecting mRNA splicing however these predictions were not confirmed by published functional/translational studies. |