ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90786C>T (p.Ile30262=) (rs727504439)

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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 RCV000154890 SCV000204572 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ile27694Ile in exon 284 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 1/3266 African Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Ile27694Ile in exon 284 of TTN (allele freq uency = 1/3266) **
Invitae RCV001088394 SCV000555305 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-04-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727239 SCV000706865 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing

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