ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98721C>A (p.Leu32907=) (rs375361462)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040876 SCV000064567 benign not specified 2012-04-18 criteria provided, single submitter clinical testing Leu30339Leu in exon 302 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and it has been identified in 0.4% (13/3146) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS/)
GeneDx RCV000040876 SCV000236694 benign not specified 2014-09-15 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 RCV000244471 SCV000319158 likely benign Cardiovascular phenotype 2013-11-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040876 SCV000332162 likely benign not specified 2015-06-11 criteria provided, single submitter clinical testing
Invitae RCV000459877 SCV000555183 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing

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