Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041287 | SCV000064978 | likely benign | not specified | 2012-05-23 | criteria provided, single submitter | clinical testing | Val88Val in exon 4 of USH1C: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. |
Invitae | RCV001488734 | SCV001693258 | likely benign | not provided | 2022-10-20 | criteria provided, single submitter | clinical testing |