Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003729817 | SCV004537207 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003966649 | SCV004791313 | uncertain significance | RHOBTB2-related disorder | 2023-10-27 | no assertion criteria provided | clinical testing | The RHOBTB2 c.1154G>A variant is predicted to result in the amino acid substitution p.Arg385His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0035% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-22864846-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |