ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58869A>G (p.Lys19623=) (rs191066933)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040410 SCV000064101 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Lys17055Lys in Exon 248 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 and has been identified in 0.4% (11/3044) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS;).
Invitae RCV000226435 SCV000286747 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040410 SCV000342022 likely benign not specified 2016-06-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769998 SCV000901424 benign Cardiomyopathy 2017-03-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000040410 SCV001437451 likely benign not specified 2020-09-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285208 SCV001471606 likely benign none provided 2020-08-23 criteria provided, single submitter clinical testing

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