ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys) (rs72646833)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000040394 SCV000051463 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040394 SCV000064085 benign not specified 2012-04-10 criteria provided, single submitter clinical testing 2.1% (66/3130) of Afr American chrom from ESP
GeneDx RCV000040394 SCV000169303 benign not specified 2014-04-20 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 RCV000230412 SCV000286737 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000246059 SCV000317922 likely benign Cardiovascular phenotype 2012-12-07 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770005 SCV000901431 benign Cardiomyopathy 2017-08-15 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852837 SCV000995567 benign Cardiomyopathy; Ventricular fibrillation 2019-05-20 criteria provided, single submitter clinical testing

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