Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000696878 | SCV000825458 | benign | Autoimmune interstitial lung disease-arthritis syndrome | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002533467 | SCV003727601 | uncertain significance | Inborn genetic diseases | 2022-10-25 | criteria provided, single submitter | clinical testing | The c.2602G>T (p.V868L) alteration is located in exon 25 (coding exon 25) of the COPA gene. This alteration results from a G to T substitution at nucleotide position 2602, causing the valine (V) at amino acid position 868 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |