Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000613425 | SCV000711227 | likely benign | not specified | 2017-01-13 | criteria provided, single submitter | clinical testing | p.Ala872Ala in Exon 26 of USH1C: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 10/10394 African ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs141591891). |
Gene |
RCV001584411 | SCV001820177 | likely benign | not provided | 2021-03-03 | criteria provided, single submitter | clinical testing |