ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) (rs73973139)

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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 RCV000172696 SCV000051252 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154990 SCV000204672 benign not specified 2017-12-08 criteria provided, single submitter clinical testing p.Lys4865Glu in exon 60 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (82/23842) of African chromos omes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.or g; dbSNP rs73973139) BA1
GeneDx RCV000154990 SCV000238251 likely benign not specified 2018-03-12 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000172696 SCV000281603 likely benign not provided 2016-01-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000172696 SCV000286473 likely benign not provided 2019-01-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154990 SCV000333341 likely benign not specified 2015-07-22 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852904 SCV000995643 likely benign Cardiomyopathy 2018-11-28 criteria provided, single submitter clinical testing

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