Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155316 | SCV000205002 | benign | not specified | 2016-05-21 | criteria provided, single submitter | clinical testing | Arg5143Cys in exon 71 of USH2A: This variant is not expected to have clinical s ignificance because it has been identified in 1.0% (89/8652) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs145771342). |
EGL Genetic Diagnostics, |
RCV000155316 | SCV000232401 | benign | not specified | 2015-05-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000886746 | SCV001030272 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986513 | SCV001135528 | benign | Usher syndrome, type 2A | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000986513 | SCV001453403 | benign | Usher syndrome, type 2A | 2019-12-27 | no assertion criteria provided | clinical testing |