Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037571 | SCV000061229 | benign | not specified | 2013-01-30 | criteria provided, single submitter | clinical testing | Gly1940Arg in exon 41 of MYH9: This variant is not expected to have clinical sig nificance because it has been identified in 0.3% (25/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/; dbSNP rs140588099) |
Illumina Clinical Services Laboratory, |
RCV000370238 | SCV000438296 | likely benign | Nonsyndromic Hearing Loss, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000259717 | SCV000438297 | likely benign | MYH9-related disorder | 2016-06-14 | criteria provided, single submitter | clinical testing |