Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001245926 | SCV001419250 | likely benign | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002564099 | SCV003750442 | uncertain significance | Inborn genetic diseases | 2021-04-20 | criteria provided, single submitter | clinical testing | The c.850G>A (p.V284M) alteration is located in exon 9 (coding exon 9) of the RELN gene. This alteration results from a G to A substitution at nucleotide position 850, causing the valine (V) at amino acid position 284 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |