ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=) (rs369444690)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040731 SCV000064422 likely benign not specified 2013-10-29 criteria provided, single submitter clinical testing Tyr26547Tyr in exon 277 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1/8264 European Am erican chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washingt on.edu/EVS; rs369444690). Tyr26547Tyr in exon 277 of TTN (rs369444690; allele f requency = 1/8264) **
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727242 SCV000706906 uncertain significance not provided 2017-03-13 criteria provided, single submitter clinical testing
Invitae RCV001078979 SCV000765153 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-07-24 criteria provided, single submitter clinical testing

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