Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152585 | SCV000201851 | likely benign | not specified | 2013-09-12 | criteria provided, single submitter | clinical testing | Ile3103Val in Exon 47 of USH2A: This variant is not expected to have clinical s ignificance because the isoleucine (Ile) residue at position 3103 is not conserv ed through species with mouse lemur, bushbaby, mouse and rat having a valine (Va l). In addition, it has been identified in 0.7% (6/8600) of European American c hromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS/; dbSNP rs143352618). |
Counsyl | RCV000673073 | SCV000798241 | uncertain significance | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2018-03-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001244965 | SCV001418222 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001244965 | SCV002044176 | uncertain significance | not provided | 2022-12-06 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27460420) |