Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000784934 | SCV000923476 | uncertain significance | not specified | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001262566 | SCV001440487 | uncertain significance | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003362936 | SCV004054624 | uncertain significance | Inborn genetic diseases | 2023-09-13 | criteria provided, single submitter | clinical testing | The c.5314C>T (p.P1772S) alteration is located in exon 8 (coding exon 8) of the WDR81 gene. This alteration results from a C to T substitution at nucleotide position 5314, causing the proline (P) at amino acid position 1772 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |