Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002514506 | SCV003683584 | uncertain significance | Inborn genetic diseases | 2021-07-21 | criteria provided, single submitter | clinical testing | The c.2063G>A (p.G688E) alteration is located in exon 11 (coding exon 11) of the DISC1 gene. This alteration results from a G to A substitution at nucleotide position 2063, causing the glycine (G) at amino acid position 688 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Psychiatry Genetics Yale University | RCV000084647 | SCV000116783 | not provided | not provided | no assertion provided | not provided |