Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hadassah Hebrew University Medical Center | RCV001254600 | SCV001430590 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 18B | 2019-06-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001819961 | SCV002064194 | likely pathogenic | not provided | 2022-01-14 | criteria provided, single submitter | clinical testing | Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33223529) |