ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7392T>C (p.Leu2464=) (rs565784637)

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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 RCV000223610 SCV000271087 likely benign not specified 2015-03-11 criteria provided, single submitter clinical testing p.Leu2464Leu in exon 32 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 6/8570 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725301 SCV000335840 uncertain significance not provided 2015-10-16 criteria provided, single submitter clinical testing
Invitae RCV001078577 SCV000555159 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-06-20 criteria provided, single submitter clinical testing

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