Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156889 | SCV000206610 | likely benign | not specified | 2014-11-03 | criteria provided, single submitter | clinical testing | p.Arg864Gln in exon 26 of USH1C: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, Tibetan antelope, domestic goat, cat, elephant, manatee, and tenrec have a glutamine at this position despite high nearby amino acid conservation. In addi tion, additional computational prediction tools do not suggest a high likelihood of impact to the protein. This variant has also been identified in 0.02% (2/858 6) of European American chromosomes by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/; dbSNP rs374696855). |
Invitae | RCV000913381 | SCV001058526 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000913381 | SCV001764472 | likely benign | not provided | 2018-12-12 | criteria provided, single submitter | clinical testing |