Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152593 | SCV000201867 | likely benign | not specified | 2014-09-09 | criteria provided, single submitter | clinical testing | c.8559-7G>A in intron 42 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.3% (31/10340) of African chrom osomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org; dbSN P rs199618999). |
Eurofins Ntd Llc |
RCV000727256 | SCV000707021 | uncertain significance | not provided | 2017-03-31 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000727256 | SCV001732747 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001276967 | SCV001463660 | uncertain significance | Usher syndrome type 2A | 2019-11-11 | no assertion criteria provided | clinical testing |