ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.163+12G>A (rs45580032)

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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 RCV000036557 SCV000060212 benign not specified 2012-04-20 criteria provided, single submitter clinical testing 133+12G>A in Intron 5 of TNNT2: This variant is not expected to have clinical si gnificance because it is not located within the in the splice consensus sequence . It has been identified in 5% (189/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washingto n.edu/EVS/rs45580032).
PreventionGenetics,PreventionGenetics RCV000036557 SCV000305590 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260798 SCV000353364 likely benign Cardiomyopathy, left ventricular noncompaction 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315922 SCV000353365 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370590 SCV000353366 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275890 SCV000353367 likely benign Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000036557 SCV001157529 benign not specified 2019-01-03 criteria provided, single submitter clinical testing

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