ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.200-4C>G (rs397516448)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000036558 SCV000169021 benign not specified 2014-06-03 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.
Ambry Genetics RCV000621214 SCV000736106 uncertain significance Cardiovascular phenotype 2017-11-15 criteria provided, single submitter clinical testing The c.170-4C>G intronic variant results from a C to G substitution 4 nucleotides upstream from coding exon 6 in the TNNT2 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Health, Inc RCV000777959 SCV000914060 likely benign Cardiomyopathy 2018-10-08 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000777959 SCV001333860 uncertain significance Cardiomyopathy 2018-07-16 criteria provided, single submitter clinical testing
Invitae RCV001407760 SCV001609739 likely benign Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 2020-10-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036558 SCV000060213 likely benign not specified 2008-05-14 no assertion criteria provided clinical testing

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