Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000607658 | SCV000731613 | likely benign | not specified | 2017-05-22 | criteria provided, single submitter | clinical testing | c.3811+10 C>A in intron 17 of USH2A: This variant is not expected to have clinic al significance because it is not located within the splice consensus sequence. It has been identified in 6/8584 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs769756794). |
Invitae | RCV000980072 | SCV001128020 | likely benign | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446263 | SCV004172158 | likely benign | Retinitis pigmentosa 39 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446262 | SCV004172159 | likely benign | Usher syndrome type 2A | 2023-04-11 | criteria provided, single submitter | clinical testing |