Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000579014 | SCV000681178 | uncertain significance | not provided | 2017-12-06 | criteria provided, single submitter | clinical testing | The R96X variant in the TRPM4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R96X variant is observed in 44/18854 (0.23%) alleles from individuals of East Asian background in large population cohorts (Lek et al., 2016). We interpret R96X as a variant of uncertain significance. |
Fulgent Genetics, |
RCV000765457 | SCV000896748 | uncertain significance | Progressive familial heart block type IB | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852756 | SCV000995474 | likely benign | Cardiomyopathy | 2017-04-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000765457 | SCV001614650 | likely benign | Progressive familial heart block type IB | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003372759 | SCV004093385 | likely benign | Cardiovascular phenotype | 2023-08-23 | 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. |