Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825846 | SCV000967330 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Pro668Pro 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 0.41% (47/11468) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs201586291). |
Invitae | RCV000903646 | SCV001048124 | benign | not provided | 2022-08-15 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000903646 | SCV001473277 | likely benign | not provided | 2019-09-19 | criteria provided, single submitter | clinical testing |