Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041857 | SCV000065553 | likely benign | not specified | 2016-06-09 | criteria provided, single submitter | clinical testing | p.Leu1789Leu in exon 27 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, has been identified in 35/66708 European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs138064171) and is listed as benign in one publication (McGee 2010). |
Invitae | RCV000929837 | SCV001075473 | likely benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450851 | SCV004181818 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450850 | SCV004181819 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |