Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036096 | SCV000059748 | benign | not specified | 2012-02-20 | criteria provided, single submitter | clinical testing | 286-5C>T in intron 5 of MYO7A: This variant is not expected to have clinical sig nificance because it has been identified in 4.4% (163/3706) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/; dbSNP rs111033471). |
Illumina Clinical Services Laboratory, |
RCV000287286 | SCV000374183 | likely benign | Nonsyndromic Hearing Loss, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000335289 | SCV000374184 | likely benign | Retinitis pigmentosa-deafness syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000373703 | SCV000374185 | likely benign | Nonsyndromic Hearing Loss, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000036096 | SCV000730251 | benign | not specified | 2018-01-29 | 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. |