ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41582A>C (p.Glu13861Ala)

dbSNP: rs1553746267
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642851 SCV000764538 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-05 criteria provided, single submitter clinical testing
GeneDx RCV003328613 SCV004035496 uncertain significance not provided 2023-03-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge

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