Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222607 | SCV000271150 | likely benign | not specified | 2016-01-19 | criteria provided, single submitter | clinical testing | p.Arg3Arg in exon 1 of USH1C: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. |
Invitae | RCV001485503 | SCV001689939 | likely benign | not provided | 2020-08-07 | criteria provided, single submitter | clinical testing |