ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.6714G>T (p.Thr2238=)

dbSNP: rs774836314
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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 RCV001464485 SCV001668457 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2020-08-04 criteria provided, single submitter clinical testing
GeneDx RCV000936888 SCV001794772 likely benign not provided 2019-12-16 criteria provided, single submitter clinical testing

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