Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000641069 | SCV000762687 | likely benign | Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001569523 | SCV001793623 | uncertain significance | not provided | 2019-03-07 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32668055) |
Fulgent Genetics, |
RCV000641069 | SCV002815914 | uncertain significance | Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 | 2021-10-26 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001569523 | SCV003832782 | uncertain significance | not provided | 2022-04-19 | criteria provided, single submitter | clinical testing |