ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72114G>A (p.Thr24038=)

gnomAD frequency: 0.00004  dbSNP: rs768064912
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726738 SCV000702595 uncertain significance not provided 2016-10-12 criteria provided, single submitter clinical testing
GeneDx RCV000726738 SCV000715655 likely benign not provided 2021-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001445279 SCV001648306 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-27 criteria provided, single submitter clinical testing

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