ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.2139T>C (p.Ala713=) (rs2229920)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000145914 SCV000613151 benign not specified 2017-07-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145914 SCV000193051 likely benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312099 SCV000410383 benign Centronuclear Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371358 SCV000410384 benign Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000145914 SCV000269030 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ala713Ala in exon 19 of DNM2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 29.1% (2504/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2229920).
PreventionGenetics RCV000145914 SCV000305624 benign not specified criteria provided, single submitter clinical testing

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