Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001500996 | SCV001705800 | likely benign | not provided | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002563334 | SCV003754564 | uncertain significance | Inborn genetic diseases | 2021-11-12 | criteria provided, single submitter | clinical testing | The c.6265C>A (p.P2089T) alteration is located in exon 75 (coding exon 75) of the COL7A1 gene. This alteration results from a C to A substitution at nucleotide position 6265, causing the proline (P) at amino acid position 2089 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |