ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88340C>G (p.Thr29447Arg) (rs140201636)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154902 SCV000701087 likely benign not specified 2017-06-08 criteria provided, single submitter clinical testing
GeneDx RCV000154902 SCV000237697 likely benign not specified 2017-01-18 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 RCV000464472 SCV000555404 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-07-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154902 SCV000204584 likely benign not specified 2013-10-14 criteria provided, single submitter clinical testing Thr26879Arg in exon 280 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (13/3660) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS/; dbSNP rs140201636). Thr26879Arg in exon 280 of TTN (rs140201636; allele f requency = 0.3%, 13/3660) **

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