Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652998 | SCV000774872 | likely benign | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2023-11-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002285391 | SCV002576112 | uncertain significance | not provided | 2022-03-21 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002534190 | SCV003558768 | uncertain significance | Inborn genetic diseases | 2021-04-01 | criteria provided, single submitter | clinical testing | The c.1379A>C (p.K460T) alteration is located in exon 12 (coding exon 12) of the RELN gene. This alteration results from a A to C substitution at nucleotide position 1379, causing the lysine (K) at amino acid position 460 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |