ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.25-4C>T (rs202086705)

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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 RCV000036279 SCV000059931 likely benign not specified 2013-12-26 criteria provided, single submitter clinical testing 25-4C>T in intron 2 of TNNI3: This variant is not expected to have clinical sign ificance because it does not affect the splice consensus sequence. It has been i dentified in 0.25% (10/4014) of African American chromosomes from a broad popula tion by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS) 2 5-4C>T in intron 2 of TNNI3 (allele frequency = 0.25%; 10/4014)
GeneDx RCV000036279 SCV000514918 benign not specified 2015-05-12 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.
Invitae RCV000462385 SCV000562159 benign Hypertrophic cardiomyopathy 2020-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620983 SCV000737185 likely benign Cardiovascular phenotype 2019-03-04 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769533 SCV000900928 benign Cardiomyopathy 2018-04-30 criteria provided, single submitter clinical testing
Color Health, Inc RCV000769533 SCV001344877 benign Cardiomyopathy 2018-12-13 criteria provided, single submitter clinical testing

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