Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000653102 | SCV000774977 | likely benign | Autoimmune interstitial lung disease-arthritis syndrome | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002534193 | SCV003654781 | uncertain significance | Inborn genetic diseases | 2022-10-04 | criteria provided, single submitter | clinical testing | The c.2546T>C (p.V849A) alteration is located in exon 24 (coding exon 24) of the COPA gene. This alteration results from a T to C substitution at nucleotide position 2546, causing the valine (V) at amino acid position 849 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |