Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004473018 | SCV004969640 | uncertain significance | not specified | 2023-12-15 | criteria provided, single submitter | clinical testing | The c.2129C>T (p.T710M) alteration is located in exon 4 (coding exon 3) of the TNC gene. This alteration results from a C to T substitution at nucleotide position 2129, causing the threonine (T) at amino acid position 710 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Center for Computational Biology & Bioinformatics, |
RCV004573465 | SCV005050001 | uncertain significance | Meniere disease | 2024-06-03 | no assertion criteria provided | research |