Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003429100 | SCV004117116 | uncertain significance | SLX4-related disorder | 2023-05-10 | criteria provided, single submitter | clinical testing | The SLX4 c.1951C>G variant is predicted to result in the amino acid substitution p.Pro651Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-3645668-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |