Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001051509 | SCV001215665 | likely benign | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003405256 | SCV004113836 | uncertain significance | RELN-related condition | 2023-01-27 | criteria provided, single submitter | clinical testing | The RELN c.1687G>C variant is predicted to result in the amino acid substitution p.Val563Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.025% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-103293074-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |