Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000386325 | SCV000338575 | uncertain significance | not provided | 2016-01-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000554886 | SCV000656263 | benign | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002519183 | SCV003741538 | uncertain significance | Inborn genetic diseases | 2022-02-10 | criteria provided, single submitter | clinical testing | The c.1708C>G (p.H570D) alteration is located in exon 14 (coding exon 14) of the RELN gene. This alteration results from a C to G substitution at nucleotide position 1708, causing the histidine (H) at amino acid position 570 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |