ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.5818G>A (p.Gly1940Arg) (rs140588099)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized 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,Illumina RCV000370238 SCV000438296 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259717 SCV000438297 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing

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