ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.31566T>A (p.Ile10522=)

gnomAD frequency: 0.00002  dbSNP: rs200239159
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698057 SCV000731113 likely benign not provided 2021-02-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001497462 SCV001702190 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-08-14 criteria provided, single submitter clinical testing

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