Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041779 | SCV000065475 | likely benign | not specified | 2015-08-26 | criteria provided, single submitter | clinical testing | p.Ser5034Ser in exon 70 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, and has been identified in 1/16512 South Asia n and 4/66736 European chromosomes by the Exome Aggregation Consortium (ExAC, ht tp://exac.broadinstitute.org; dbSNP rs147916810). |
Invitae | RCV000980920 | SCV001128881 | likely benign | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450813 | SCV004181770 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450812 | SCV004181781 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |