Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156642 | SCV000206363 | uncertain significance | not specified | 2014-06-27 | criteria provided, single submitter | clinical testing | The Thr3635Asn variant in USH2A has been previously reported in one Japanese ind ividual with hearing loss; however the variant was also identified in 1/144 race matched control chromosomes and a second variant affecting the remaining copy o f USH2A was not identified (Miyagawa 2013). Computational prediction tools and c onservation analyses do not provide strong support for or against an impact to t he protein. In summary, the clinical significance of the Thr3635Asn variant is u ncertain. |
Fulgent Genetics, |
RCV000763828 | SCV000894746 | uncertain significance | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2021-11-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002516341 | SCV003271267 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Dept Of Ophthalmology, |
RCV003888605 | SCV004707876 | likely benign | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Natera, |
RCV001271141 | SCV001451995 | uncertain significance | Usher syndrome type 2A | 2020-09-16 | no assertion criteria provided | clinical testing |