ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.1083C>T (p.Asp361=) (rs56001030)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037545 SCV000061203 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Asp361Asp in Exon 10 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 0.7% (48/7020) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs56001030).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037545 SCV000224906 benign not specified 2015-03-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037545 SCV000309013 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349300 SCV000438470 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393048 SCV000438471 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000037545 SCV000718776 benign not specified 2018-02-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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