ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34592A>G (p.Glu11531Gly)

dbSNP: rs1553815943
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000544089 SCV000643026 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-04-04 criteria provided, single submitter clinical testing
GeneDx RCV004812329 SCV005437970 uncertain significance not provided 2024-06-11 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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