Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041867 | SCV000065563 | likely benign | not specified | 2013-02-01 | criteria provided, single submitter | clinical testing | 5776+7 T>G in Intron 28 of USH2A: This variant is not expected to have clinical significance because it is not located within the conserved region of the splice consensus sequence. |
Invitae | RCV000982275 | SCV001130289 | likely benign | not provided | 2023-09-21 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445126 | SCV004172116 | likely benign | Retinitis pigmentosa 39 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445125 | SCV004172117 | likely benign | Usher syndrome type 2A | 2023-04-11 | criteria provided, single submitter | clinical testing |