Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731289 | SCV000859089 | uncertain significance | not provided | 2018-01-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002536461 | SCV003642720 | uncertain significance | Inborn genetic diseases | 2021-11-15 | criteria provided, single submitter | clinical testing | The c.1433G>C (p.R478T) alteration is located in exon 9 (coding exon 9) of the TJP2 gene. This alteration results from a G to C substitution at nucleotide position 1433, causing the arginine (R) at amino acid position 478 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |