Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001309139 | SCV001498628 | likely benign | not provided | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003294250 | SCV003991122 | uncertain significance | Inborn genetic diseases | 2023-06-07 | criteria provided, single submitter | clinical testing | The c.4001G>A (p.R1334H) alteration is located in exon 33 (coding exon 33) of the COL7A1 gene. This alteration results from a G to A substitution at nucleotide position 4001, causing the arginine (R) at amino acid position 1334 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |