Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156638 | SCV000206359 | likely benign | not specified | 2014-07-03 | criteria provided, single submitter | clinical testing | Leu2047Leu in exon 31 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. |
Counsyl | RCV000664557 | SCV000788541 | likely benign | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2017-05-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001392873 | SCV001594522 | likely benign | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453197 | SCV004181704 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453196 | SCV004181705 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |