Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000332212 | SCV000363527 | likely benign | Retinitis pigmentosa-deafness syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000389163 | SCV000363528 | likely benign | Nonsyndromic Hearing Loss, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000455240 | SCV000538649 | likely benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Outside ROI, common in our data set |
Gene |
RCV001683211 | SCV001895957 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000455240 | SCV000581688 | benign | not specified | 2017-11-12 | flagged submission | 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. |