Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001562094 | SCV001784809 | likely benign | not provided | 2018-07-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001562094 | SCV004156228 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | TNXB: BP4, BS1 |
Breakthrough Genomics, |
RCV001562094 | SCV005225587 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV004752012 | SCV005344411 | uncertain significance | TNXB-related disorder | 2024-03-28 | no assertion criteria provided | clinical testing | The TNXB c.10798G>A variant is predicted to result in the amino acid substitution p.Val3600Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 1.2% of alleles in individuals of African descent in gnomAD. This variant falls within a highly paralogous region. Allele frequency data should be interpreted with caution. Although we suspect this variant is benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |