Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002069444 | SCV002381965 | likely benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002537814 | SCV003658524 | uncertain significance | Inborn genetic diseases | 2022-01-31 | criteria provided, single submitter | clinical testing | The c.6730C>G (p.P2244A) alteration is located in exon 85 (coding exon 85) of the COL7A1 gene. This alteration results from a C to G substitution at nucleotide position 6730, causing the proline (P) at amino acid position 2244 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001278933 | SCV001465979 | uncertain significance | Epidermolysis bullosa dystrophica inversa, autosomal recessive | 2020-10-22 | no assertion criteria provided | clinical testing |