Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003721104 | SCV004502123 | pathogenic | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg568*) in the CCDC88C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CCDC88C are known to be pathogenic (PMID: 23042809, 29225145). This variant is present in population databases (rs777488098, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with hydrocephalus (PMID: 29225145). For these reasons, this variant has been classified as Pathogenic. |
Solve- |
RCV004765940 | SCV005091503 | likely pathogenic | Spinocerebellar ataxia type 40 | 2022-06-01 | no assertion criteria provided | provider interpretation | Variant confirmed as disease-causing by referring clinical team |