Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041906 | SCV000065602 | likely benign | not specified | 2015-12-05 | criteria provided, single submitter | clinical testing | 7301-6C>T in intron 38 of USH2A: This variant is not expected to have clinical significance because it is not predicted to impact the splice consensus sequence . This variant has been identified in 53/66482 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs375499259 ). |
Eurofins Ntd Llc |
RCV000724816 | SCV000229988 | uncertain significance | not provided | 2015-05-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000724816 | SCV000891880 | uncertain significance | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | USH2A: PM2, BP4 |
Invitae | RCV000724816 | SCV001055013 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001271985 | SCV001528863 | uncertain significance | Usher syndrome type 2A | 2018-03-21 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV000724816 | SCV001841963 | likely benign | not provided | 2021-07-21 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271985 | SCV001453613 | uncertain significance | Usher syndrome type 2A | 2020-01-17 | no assertion criteria provided | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000724816 | SCV001798642 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000724816 | SCV001973469 | likely benign | not provided | no assertion criteria provided | clinical testing |