Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041901 | SCV000065597 | likely benign | not specified | 2017-01-25 | criteria provided, single submitter | clinical testing | p.Arg2354Cys in exon 37 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.4% (45/10402) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs111033508). |
ARUP Laboratories, |
RCV000041901 | SCV000605540 | uncertain significance | not specified | 2016-09-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000893876 | SCV001037837 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271990 | SCV001453618 | uncertain significance | Usher syndrome type 2A | 2019-11-07 | no assertion criteria provided | clinical testing |