ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.4198C>T (p.Arg1400Trp) (rs76368635)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037559 SCV000061217 benign not specified 2013-03-04 criteria provided, single submitter clinical testing Arg1400Trp in exon 31 of MYH9: This variant is not expected to have clinical sig nificance because it has been identified in 7/122 (5.7%) control chromosomes (Be rg 2013) and has been seen in 0.2% (19/6980) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs7 6368635). It has been reported in the literature in individuals with macrothromb ocytopenia with or without renal impairment (Arrondel 2001, Jang 2012, Sanborn 2 011), however lack of clear segregation with disease and limited control informa tion in these studies do not support a strong association between this variant and macrothrombocytopenia. In summary, the frequency of this variant in the gene ral population supports a benign role.
PreventionGenetics,PreventionGenetics RCV000037559 SCV000309058 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037559 SCV000340859 likely benign not specified 2016-04-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346916 SCV000438364 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382897 SCV000438365 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Mendelics RCV000990430 SCV001141417 likely benign Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992411 SCV001144685 benign not provided 2019-06-05 criteria provided, single submitter clinical testing

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