Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000962784 | SCV001109885 | likely benign | not provided | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001289322 | SCV001477056 | benign | not specified | 2020-08-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002548285 | SCV003615118 | uncertain significance | Inborn genetic diseases | 2021-07-20 | criteria provided, single submitter | clinical testing | The c.146A>T (p.D49V) alteration is located in exon 2 (coding exon 2) of the TGM6 gene. This alteration results from a A to T substitution at nucleotide position 146, causing the aspartic acid (D) at amino acid position 49 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |