Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000640866 | SCV000762468 | likely benign | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 2022-09-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002533252 | SCV003621563 | uncertain significance | Inborn genetic diseases | 2022-07-26 | criteria provided, single submitter | clinical testing | The c.982G>A (p.V328I) alteration is located in exon 9 (coding exon 8) of the SRPX2 gene. This alteration results from a G to A substitution at nucleotide position 982, causing the valine (V) at amino acid position 328 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |