Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000380542 | SCV000333411 | uncertain significance | not provided | 2015-08-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000526874 | SCV000656255 | likely benign | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002521877 | SCV003573394 | uncertain significance | Inborn genetic diseases | 2021-07-22 | criteria provided, single submitter | clinical testing | The c.1013T>G (p.V338G) alteration is located in exon 10 (coding exon 10) of the RELN gene. This alteration results from a T to G substitution at nucleotide position 1013, causing the valine (V) at amino acid position 338 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |