Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV003134165 | SCV003815379 | uncertain significance | Schaaf-Yang syndrome | 2019-01-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900965 | SCV004716550 | uncertain significance | MAGEL2-related disorder | 2023-11-02 | criteria provided, single submitter | clinical testing | The MAGEL2 c.2745G>T variant is predicted to result in the amino acid substitution p.Glu915Asp. 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/15-23890145-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |