Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000993318 | SCV001146171 | likely benign | not provided | 2018-09-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000993318 | SCV001153418 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | TGM6: BP4 |
Invitae | RCV000993318 | SCV001671184 | likely benign | not provided | 2023-05-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002549838 | SCV003686132 | uncertain significance | Inborn genetic diseases | 2022-11-09 | criteria provided, single submitter | clinical testing | The c.2078A>G (p.D693G) alteration is located in exon 13 (coding exon 13) of the TGM6 gene. This alteration results from a A to G substitution at nucleotide position 2078, causing the aspartic acid (D) at amino acid position 693 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |