Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703502 | SCV000514781 | likely benign | not provided | 2018-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000864515 | SCV001005325 | benign | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 2020-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004668967 | SCV005172623 | uncertain significance | not specified | 2024-05-24 | criteria provided, single submitter | clinical testing | The c.323G>A (p.S108N) alteration is located in exon 4 (coding exon 3) of the SRPX2 gene. This alteration results from a G to A substitution at nucleotide position 323, causing the serine (S) at amino acid position 108 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |