ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.31071C>T (p.His10357=) (rs368973334)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152378 SCV000201330 likely benign not specified 2014-11-12 criteria provided, single submitter clinical testing p.His9113His in exon 111 of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 3/6326 European Ame rican chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washingto n.edu/EVS; rs368973334).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726543 SCV000345349 uncertain significance not provided 2016-09-06 criteria provided, single submitter clinical testing
Invitae RCV000460828 SCV000555659 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000152378 SCV000597662 likely benign not specified 2016-04-29 criteria provided, single submitter clinical testing

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