Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175317 | SCV000226788 | uncertain significance | not provided | 2014-07-08 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764668 | SCV000895798 | uncertain significance | Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2022-04-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000810122 | SCV000950311 | likely benign | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2023-10-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000175317 | SCV001249277 | uncertain significance | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002516672 | SCV003711946 | uncertain significance | Inborn genetic diseases | 2022-02-10 | criteria provided, single submitter | clinical testing | The c.2125A>G (p.M709V) alteration is located in exon 18 (coding exon 18) of the RELN gene. This alteration results from a A to G substitution at nucleotide position 2125, causing the methionine (M) at amino acid position 709 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Institute of Human Genetics, |
RCV003458196 | SCV004177251 | uncertain significance | Familial temporal lobe epilepsy 7 | criteria provided, single submitter | not provided |