Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000616006 | SCV000711230 | likely benign | not specified | 2017-01-24 | criteria provided, single submitter | clinical testing | p.Arg636His in exon 18 of USH1C: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, the pika, Weddell seal, opossum, Tasmanian devil, and wallaby have a hist idine (His) at this position. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein. |