ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54718G>A (p.Val18240Ile)

gnomAD frequency: 0.00017  dbSNP: rs375141729
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000267586 SCV000334823 uncertain significance not provided 2015-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000547837 SCV000643367 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-28 criteria provided, single submitter clinical testing
GeneDx RCV000267586 SCV001810963 likely benign not provided 2020-04-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000267586 SCV003818337 uncertain significance not provided 2019-06-18 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005404474 SCV006069949 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing

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