Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000610204 | SCV000712532 | likely benign | not specified | 2016-10-25 | criteria provided, single submitter | clinical testing | p.Val856Val in exon 26 of USH1C: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It was absent from large population studies . |
Invitae | RCV000930130 | SCV001075775 | likely benign | not provided | 2018-09-16 | criteria provided, single submitter | clinical testing |