Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003105491 | SCV003792294 | uncertain significance | Dilated cardiomyopathy 1DD | 2023-05-22 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with RBM20-related conditions. A copy number gain of the genomic region encompassing the full coding sequence of the RBM20 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. |
| Labcorp Genetics |
RCV004579594 | SCV005065792 | pathogenic | RASopathy | 2023-05-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with SHOC2-related conditions (Invitae). In at least one individual the variant was observed to be de novo. A copy number gain of the genomic region encompassing the full coding sequence of the SHOC2 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. |