ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.294+7G>A (rs45490292)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036572 SCV000060227 benign not specified 2010-05-03 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it is not loc ated in the conserved region of the splicing consensus sequence and it is a comm on variant in the Black population.
Invitae RCV000204723 SCV000262110 benign Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 2018-01-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000036572 SCV000305594 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317958 SCV000353348 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372658 SCV000353349 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278193 SCV000353350 likely benign Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333512 SCV000353351 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030566 SCV000053237 benign Primary familial hypertrophic cardiomyopathy 2012-02-22 no assertion criteria provided clinical testing

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