Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000309453 | SCV000341878 | uncertain significance | not provided | 2016-05-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002521983 | SCV003726475 | uncertain significance | Inborn genetic diseases | 2022-09-22 | criteria provided, single submitter | clinical testing | The c.2851C>T (p.R951C) alteration is located in exon 19 (coding exon 19) of the TJP2 gene. This alteration results from a C to T substitution at nucleotide position 2851, causing the arginine (R) at amino acid position 951 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |