Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081228 | SCV000113136 | uncertain significance | not provided | 2013-08-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764667 | SCV000895797 | uncertain significance | Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2021-10-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001045874 | SCV001209748 | likely benign | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2024-01-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003974973 | SCV004787525 | uncertain significance | RELN-related condition | 2023-12-15 | criteria provided, single submitter | clinical testing | The RELN c.2446C>T variant is predicted to result in the amino acid substitution p.Leu816Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.040% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |