ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.384G>A (p.Leu128=) (rs373130533)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036288 SCV000059940 likely benign not specified 2010-05-03 criteria provided, single submitter clinical testing The Leu128Leu variant is not expected to have clinical significance because it d oes not alter an amino acid residue and is not located near a splice junction. H owever, on rare occasions, base changes that do not result in amino acid changes can be associated with disease.
GeneDx RCV000456837 SCV000522494 likely benign not provided 2018-09-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20474083)
Invitae RCV001082499 SCV000562161 likely benign Hypertrophic cardiomyopathy 2020-09-02 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769527 SCV000900922 uncertain significance Cardiomyopathy 2015-12-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000456837 SCV001152076 likely benign not provided 2019-01-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV000769527 SCV001355067 likely benign Cardiomyopathy 2019-12-09 criteria provided, single submitter clinical testing

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