Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001538945 | SCV001756664 | uncertain significance | not provided | 2022-12-02 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV001538945 | SCV002192694 | likely benign | not provided | 2024-10-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002568245 | SCV003685943 | uncertain significance | Inborn genetic diseases | 2021-05-01 | criteria provided, single submitter | clinical testing | The c.766G>A (p.G256S) alteration is located in exon 8 (coding exon 8) of the TSEN54 gene. This alteration results from a G to A substitution at nucleotide position 766, causing the glycine (G) at amino acid position 256 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Department of Pathology and Laboratory Medicine, |
RCV005395066 | SCV006053292 | uncertain significance | Pontocerebellar hypoplasia type 4; Pontocerebellar hypoplasia type 2A; Pontocerebellar hypoplasia type 5 | 2022-05-30 | criteria provided, single submitter | research |