Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596600 | SCV000703264 | uncertain significance | not provided | 2016-12-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001040461 | SCV001204037 | likely benign | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2023-07-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000596600 | SCV002497546 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | RELN: PM2:Supporting, BP4, BP5 |
Ambry Genetics | RCV002532410 | SCV003579211 | uncertain significance | Inborn genetic diseases | 2021-09-30 | criteria provided, single submitter | clinical testing | The c.6106G>A (p.A2036T) alteration is located in exon 41 (coding exon 41) of the RELN gene. This alteration results from a G to A substitution at nucleotide position 6106, causing the alanine (A) at amino acid position 2036 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |