Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001066742 | SCV001231760 | uncertain significance | Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004030623 | SCV004978937 | uncertain significance | Inborn genetic diseases | 2024-01-31 | criteria provided, single submitter | clinical testing | The c.656G>A (p.S219N) alteration is located in exon 7 (coding exon 7) of the WWOX gene. This alteration results from a G to A substitution at nucleotide position 656, causing the serine (S) at amino acid position 219 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |