Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004996644 | SCV005520456 | uncertain significance | Cardiovascular phenotype | 2024-08-04 | criteria provided, single submitter | clinical testing | The c.7541C>G (p.T2514R) alteration is located in exon 22 (coding exon 21) of the TNXB gene. This alteration results from a C to G substitution at nucleotide position 7541, causing the threonine (T) at amino acid position 2514 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |