Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152545 | SCV000201756 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | Arg620Leu in Exon 18 of USH1C: This variant is not expected to have clinical sig nificance because it has been identified in 2.9% (110/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs139996942). |
Eurofins Ntd Llc |
RCV000152545 | SCV000338407 | benign | not specified | 2016-01-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000152545 | SCV000730519 | benign | not specified | 2017-03-27 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000892650 | SCV001036541 | benign | not provided | 2023-09-08 | criteria provided, single submitter | clinical testing |