Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000606705 | SCV000731510 | benign | not specified | 2017-02-16 | criteria provided, single submitter | clinical testing | p.Arg2001Cys in exon 30 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.5% (47/8630) of East Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs141539554). In addition, this amino acid position is not highly conse rved in mammals including three mammals (shrew, star-nosed mole, and elephant) w ith a Cysteine (C) at this position. |
Invitae | RCV000900596 | SCV001044922 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000900596 | SCV001788480 | likely benign | not provided | 2021-04-21 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24938718) |
Fulgent Genetics, |
RCV002476370 | SCV002803432 | likely benign | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2021-11-09 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003451451 | SCV004181731 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001834950 | SCV004181732 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905656 | SCV004725065 | likely benign | USH2A-related condition | 2020-07-15 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001834950 | SCV002090905 | likely benign | Usher syndrome type 2A | 2019-11-07 | no assertion criteria provided | clinical testing |