ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) (rs3729547)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036579 SCV000060234 benign not specified 2008-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000036579 SCV000169023 benign not specified 2012-09-25 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.
PreventionGenetics,PreventionGenetics RCV000036579 SCV000305595 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000243565 SCV000317581 benign Cardiovascular phenotype 2015-06-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266465 SCV000353344 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321667 SCV000353345 likely benign Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357724 SCV000353346 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262774 SCV000353347 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000775977 SCV000910498 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845409 SCV000987475 benign not provided criteria provided, single submitter clinical testing
Invitae RCV001081352 SCV000999947 benign Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 2019-12-31 criteria provided, single submitter clinical testing

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