Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041843 | SCV000065539 | likely benign | not specified | 2014-08-11 | criteria provided, single submitter | clinical testing | Ala1511Val in Exon 21A of USH2A: This variant is not expected to have clinical s ignificance because the alanine (Ala) residue at position 1511 is poorly conserv ed across species, with two mammals (prairie vole and wallaby) having a valine ( Val) at this position, and computational tools (biochemical amino acid propertie s, conservation, AlignGVGD, PolyPhen2, and SIFT) do not suggest an impact to the protein. The Ala1511Val variant has been identified in 1/8600 European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu ; dbSNP rs201710470). |
Invitae | RCV001033957 | SCV001197277 | likely benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001033957 | SCV001886195 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450846 | SCV004182232 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450845 | SCV004182233 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |