Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222384 | SCV000271147 | likely benign | not specified | 2016-02-23 | criteria provided, single submitter | clinical testing | p.Pro516Pro in exon 18 of USH1C: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 3/61356 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs780428813). |
Counsyl | RCV000670018 | SCV000794827 | likely benign | Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A | 2017-10-17 | criteria provided, single submitter | clinical testing |