ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33339A>G (p.Lys11113=)

dbSNP: rs926306750
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643717 SCV000765404 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-21 criteria provided, single submitter clinical testing
GeneDx RCV003324779 SCV004030661 uncertain significance not provided 2023-02-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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