ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34260A>G (p.Glu11420=)

gnomAD frequency: 0.00005  dbSNP: rs374616513
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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 RCV001503439 SCV001708294 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-12-17 criteria provided, single submitter clinical testing
GeneDx RCV001587439 SCV001825929 likely benign not provided 2020-10-12 criteria provided, single submitter clinical testing

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