Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001446658 | SCV001649710 | likely benign | not provided | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003346563 | SCV004051637 | uncertain significance | Inborn genetic diseases | 2023-07-30 | criteria provided, single submitter | clinical testing | The c.5956G>A (p.E1986K) alteration is located in exon 72 (coding exon 72) of the COL7A1 gene. This alteration results from a G to A substitution at nucleotide position 5956, causing the glutamic acid (E) at amino acid position 1986 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |