ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.246G>T (p.Pro82=) (rs397516343)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036278 SCV000059930 likely benign not specified 2012-06-04 criteria provided, single submitter clinical testing Pro82Pro in exon 5 of TNNI3: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Pro82Pro in exon 5 of TNNI3 (allele frequency = n/a)
GeneDx RCV000036278 SCV000520165 likely benign not specified 2017-03-30 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769530 SCV000900925 likely benign Cardiomyopathy 2016-12-29 criteria provided, single submitter clinical testing
Color Health, Inc RCV000769530 SCV001351787 likely benign Cardiomyopathy 2019-04-26 criteria provided, single submitter clinical testing

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