Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150342 | SCV000197448 | uncertain significance | not specified | 2014-07-01 | criteria provided, single submitter | clinical testing | The Ser91Ser variant in CLDN14 has not been previously reported in individuals w ith hearing loss and was absent from large population studies. This variant does not alter the amino acid at this position, but computational tools suggest that this variant may introduce a splice site; though this information is not predic tive to determine pathogenicity. In summary, the clinical significance of the Se r91Ser variant is uncertain. |
Invitae | RCV000895619 | SCV001039669 | likely benign | not provided | 2023-08-30 | criteria provided, single submitter | clinical testing |