Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155852 | SCV000205563 | likely benign | not specified | 2017-03-28 | criteria provided, single submitter | clinical testing | p.Leu3632Leu in exon 55 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and it has been identified in 13/16512 Sou th Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs200287425) |
Invitae | RCV001403829 | SCV001605714 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453181 | SCV004182159 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453180 | SCV004182160 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |