Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193924 | SCV000248393 | uncertain significance | not specified | 2015-02-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000766101 | SCV000897580 | uncertain significance | X-linked intellectual disability-cerebellar hypoplasia syndrome | 2021-08-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002399715 | SCV002705260 | uncertain significance | Inborn genetic diseases | 2022-07-08 | criteria provided, single submitter | clinical testing | The c.1613A>G (p.D538G) alteration is located in exon 19 (coding exon 18) of the OPHN1 gene. This alteration results from a A to G substitution at nucleotide position 1613, causing the aspartic acid (D) at amino acid position 538 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |