Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000945806 | SCV001091861 | likely benign | Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001759671 | SCV001986320 | uncertain significance | not provided | 2024-08-15 | criteria provided, single submitter | clinical testing | In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31320745, 31772029, 24262145, 24183309, 36889460, 35832578, 37740860, 37421629, 27943079) |