Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003201834 | SCV003880118 | uncertain significance | Cardiovascular phenotype | 2023-04-18 | criteria provided, single submitter | clinical testing | The c.7187C>G (p.P2396R) alteration is located in exon 21 (coding exon 20) of the TNXB gene. This alteration results from a C to G substitution at nucleotide position 7187, causing the proline (P) at amino acid position 2396 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |