ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.2721C>T (p.Thr907=) (rs148112044)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151337 SCV000199311 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Thr907Thr in Exon 22 of MYH9: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1.8% (69/3738) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs148112044).
PreventionGenetics,PreventionGenetics RCV000151337 SCV000309038 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348023 SCV000438410 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393134 SCV000438411 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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