ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.5010G>A (p.Glu1670=) (rs76069100)

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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 RCV000155176 SCV000204862 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Glu1670Glu in Exon 35 of MYH9: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.1% (3/3738) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs76069100).
PreventionGenetics,PreventionGenetics RCV000155176 SCV000309068 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322530 SCV000438318 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379501 SCV000438319 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing

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