ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73336C>T (p.Leu24446=) (rs189768015)

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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 RCV000040591 SCV000064282 likely benign not specified 2015-08-12 criteria provided, single submitter clinical testing p.Leu21878Leu in exon 275 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, and is not located within the splice consensus sequence. It has been identified in 0.2% (29/11544 ) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs189768015).
GeneDx RCV000040591 SCV000169358 benign not specified 2014-02-28 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040591 SCV000333042 likely benign not specified 2015-07-14 criteria provided, single submitter clinical testing
Invitae RCV000472059 SCV000555084 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619669 SCV000736726 likely benign Cardiovascular phenotype 2016-12-02 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769948 SCV000901374 benign Cardiomyopathy 2017-08-23 criteria provided, single submitter clinical testing

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