Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599256 | SCV000710667 | uncertain significance | not provided | 2022-10-18 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Reported using an alternate transcript of the gene; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015) |
Ce |
RCV000599256 | SCV005040992 | likely benign | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | ANK3: BP4 |