Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220457 | SCV000271149 | likely benign | not specified | 2015-04-22 | criteria provided, single submitter | clinical testing | c.248+7_248+20del in intron 3 of USH1C: This variant is not expected to have cl inical significance because it is not located within the splice consensus sequen ce and it is not predicted to impact splicing. |
Invitae | RCV001059559 | SCV001224186 | likely benign | not provided | 2023-04-18 | criteria provided, single submitter | clinical testing |