Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000493091 | SCV000583188 | likely pathogenic | not provided | 2022-04-02 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate abnormal splicing with several abnormal transcripts produced and a reduction of the wild-type transcript (Cifuentes et al., 2013); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 23834121, Uyanik2019[Abstract], 29627521) |