Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152582 | SCV000201844 | likely benign | not specified | 2014-07-09 | criteria provided, single submitter | clinical testing | Ser3552Ser in exon 54 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. |
Invitae | RCV003688830 | SCV004451911 | likely benign | not provided | 2023-04-08 | criteria provided, single submitter | clinical testing |