Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002264534 | SCV002543063 | uncertain significance | Autoinflammatory syndrome | 2018-04-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003164377 | SCV003878474 | uncertain significance | Inborn genetic diseases | 2023-02-09 | criteria provided, single submitter | clinical testing | The c.766A>T (p.T256S) alteration is located in exon 7 (coding exon 5) of the TMEM173 gene. This alteration results from a A to T substitution at nucleotide position 766, causing the threonine (T) 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. |