Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041758 | SCV000065454 | likely benign | not specified | 2011-09-29 | criteria provided, single submitter | clinical testing | This variant is not expected to have clinical significance because it does not a lter an amino acid residue, is not located near a splice junction and is listed in dbSNP with a frequency of 0.1% (5/4552) control chromosomes (rs147037435). |
Invitae | RCV000952468 | SCV001098974 | likely benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450791 | SCV004183079 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450790 | SCV004183081 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |