Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155320 | SCV000205006 | likely benign | not specified | 2015-12-17 | criteria provided, single submitter | clinical testing | p.Leu4030Leu in Exon 62 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, and it is not loca ted within the splice consensus sequence. It has been identified in 26/66698 Eu ropean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs141528682). |
Gene |
RCV000910810 | SCV000516142 | likely benign | not provided | 2020-07-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000910810 | SCV001055858 | benign | not provided | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453167 | SCV004182048 | benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453166 | SCV004182049 | benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |