Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002197824 | SCV002351565 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003403675 | SCV004105675 | uncertain significance | RAI1-related disorder | 2023-07-25 | criteria provided, single submitter | clinical testing | The RAI1 c.73T>A variant is predicted to result in the amino acid substitution p.Ser25Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-17696335-T-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |