Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000605472 | SCV000711237 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Tyr2294Tyr in Exon 36 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1/3738 African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs147615382). |
Invitae | RCV001504216 | SCV001709088 | likely benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003451359 | SCV004181599 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003451358 | SCV004181600 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |