Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002192570 | SCV002356695 | likely benign | Nemaline myopathy 8 | 2023-10-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004785474 | SCV005401546 | uncertain significance | not provided | 2024-05-16 | criteria provided, single submitter | clinical testing | Report previously in cohort of patients with autism; this patient also harbored a variant in another gene (PMID: 35982159, 33057194); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 35982159, 33057194) |