Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220912 | SCV000271155 | likely benign | not specified | 2015-11-10 | criteria provided, single submitter | clinical testing | p.Leu3466Leu in exon 53 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 4/63866 of Europ ean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org;dbSNP rs563370514). |
Invitae | RCV000898437 | SCV001042645 | likely benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003454573 | SCV004182569 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003454572 | SCV004182570 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |