Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000195080 | SCV000246553 | pathogenic | X-linked lissencephaly with abnormal genitalia | 2014-11-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001815243 | SCV002063301 | pathogenic | not provided | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001815243 | SCV004036868 | likely pathogenic | not provided | 2023-09-21 | criteria provided, single submitter | clinical testing | Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 72 amino acids are lost and replaced with 40 incorrect amino acids; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21426321) |