ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103209G>A (p.Leu34403=)

gnomAD frequency: 0.00001  dbSNP: rs1430082978
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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 RCV001401239 SCV001603061 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-05-25 criteria provided, single submitter clinical testing
GeneDx RCV001655721 SCV001861708 likely benign not provided 2019-04-11 criteria provided, single submitter clinical testing

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