ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.2517G>A (p.Gln839=) (rs34498733)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151341 SCV000199315 benign not specified 2015-07-05 criteria provided, single submitter clinical testing Gln839Gln in Exon 21 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 1.3% (210/16484) of So uth Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs34498733).
PreventionGenetics,PreventionGenetics RCV000151341 SCV000309037 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301524 SCV000438418 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354007 SCV000438419 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000955604 SCV001102317 benign not provided 2018-10-09 criteria provided, single submitter clinical testing

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