ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.79410G>A (p.Gly26470=) (rs140942979)

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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 RCV000152209 SCV000200972 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Gly23902Gly in Exon 275 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in 1/2974 African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs140942979).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152209 SCV000228577 likely benign not specified 2015-02-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000152209 SCV000249280 uncertain significance not specified 2015-05-26 criteria provided, single submitter clinical testing
Invitae RCV000464687 SCV000555421 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing

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