Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520454 | SCV000618229 | uncertain significance | not provided | 2019-04-05 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Observed in 82/277,138 (0.0296%) global alleles, including 13/10,152 (0.1281%) alleles from individuals of Ashkenazi Jewish background, in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in ClinVar (ClinVar Variant ID# 180562; Landrum et al., 2016) |
Labcorp Genetics |
RCV001087683 | SCV000646083 | likely benign | Progressive familial heart block type IB | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415687 | SCV002724633 | likely benign | Cardiovascular phenotype | 2020-09-10 | 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. |
Ce |
RCV000520454 | SCV004142177 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | TRPM4: BS2 |
Blueprint Genetics | RCV000157548 | SCV000207294 | uncertain significance | Long QT syndrome | 2014-10-30 | no assertion criteria provided | clinical testing |