Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000798993 | SCV000938639 | likely benign | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002538010 | SCV003729477 | uncertain significance | Inborn genetic diseases | 2021-04-17 | criteria provided, single submitter | clinical testing | The c.1796G>A (p.R599H) alteration is located in exon 15 (coding exon 15) of the RELN gene. This alteration results from a G to A substitution at nucleotide position 1796, causing the arginine (R) at amino acid position 599 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |