Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041862 | SCV000065558 | likely benign | not specified | 2014-10-20 | criteria provided, single submitter | clinical testing | p.Arg1870Gln in exon 28 of USH2A: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, dolphin, killer whale, shrew, and manatee all have a glutamine (Gln) at t his position despite high nearby amino acid conservation. In addition, this vari ant has been identified in 3/8600 European American chromosomes by the NHLBI Exo me Sequencing Project (http://evs.gs.washington.edu/EVS/) and 0.2% (3/1323) of E uropean chromosomes by the ClinSeq project (dbSNP rs111033409). |
Gene |
RCV001512374 | SCV000731021 | likely benign | not provided | 2020-11-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25412400) |
Counsyl | RCV000670596 | SCV000795468 | likely benign | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2017-11-08 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986534 | SCV001135551 | benign | Usher syndrome type 2A | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001512374 | SCV001719782 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450854 | SCV004181786 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000986534 | SCV004181787 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000986534 | SCV001455633 | likely benign | Usher syndrome type 2A | 2019-12-14 | no assertion criteria provided | clinical testing |