Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001463112 | SCV001667045 | likely benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002537815 | SCV003587787 | uncertain significance | Inborn genetic diseases | 2021-08-17 | criteria provided, single submitter | clinical testing | The c.6596C>T (p.P2199L) alteration is located in exon 82 (coding exon 82) of the COL7A1 gene. This alteration results from a C to T substitution at nucleotide position 6596, causing the proline (P) at amino acid position 2199 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001278934 | SCV001465980 | uncertain significance | Epidermolysis bullosa dystrophica inversa, autosomal recessive | 2020-08-16 | no assertion criteria provided | clinical testing |