Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Laboratory, |
RCV001420248 | SCV001622668 | likely pathogenic | See cases | 2021-04-26 | criteria provided, single submitter | clinical testing | PM1_moderate;PM2_supporting;PM3_moderate;PP3_supporting;BP1_supporting |
Ambry Genetics | RCV002554084 | SCV003642280 | uncertain significance | Inborn genetic diseases | 2022-08-11 | criteria provided, single submitter | clinical testing | The c.454C>T (p.R152W) alteration is located in exon 5 (coding exon 5) of the TMX2 gene. This alteration results from a C to T substitution at nucleotide position 454, causing the arginine (R) at amino acid position 152 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |