ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33995-5T>C

dbSNP: rs774359312
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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 RCV001438969 SCV001641850 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-08-08 criteria provided, single submitter clinical testing
GeneDx RCV004777679 SCV005389976 uncertain significance not provided 2024-04-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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