Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150535 | SCV000197749 | likely benign | not specified | 2022-02-16 | criteria provided, single submitter | clinical testing | The p.Thr236Ala variant in DSG2 is classified as likely benign because it has been identified in 0.1% (26/19526) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). In addition, computational prediction tools and conservation analyses predict that this variant does not impact the protein. ACMG/AMP Criteria applied: BS1, BP4. |
Illumina Laboratory Services, |
RCV000395445 | SCV000408212 | uncertain significance | Arrhythmogenic right ventricular cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000288036 | SCV000408213 | uncertain significance | Dilated Cardiomyopathy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
CSER _CC_NCGL, |
RCV000395445 | SCV000700117 | 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. |
Labcorp Genetics |
RCV000642343 | SCV000764012 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000777711 | SCV000913654 | likely benign | Cardiomyopathy | 2020-02-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002362786 | SCV002663013 | likely benign | Cardiovascular phenotype | 2021-06-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |