Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037546 | SCV000061204 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | 1108+9C>T in Intron 10 of MYH9: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce and has been identified in 0.7% (51/7020) of European American chromosomes f rom a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wash ington.edu/EVS; dbSNP rs145751072). |
Prevention |
RCV000037546 | SCV000309016 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000279147 | SCV000438466 | likely benign | MYH9-related disorder | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000317889 | SCV000438467 | likely benign | Nonsyndromic Hearing Loss, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000843626 | SCV000985661 | benign | not provided | 2018-04-13 | 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. |