ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34006C>T (p.Arg11336Cys)

gnomAD frequency: 0.00002  dbSNP: rs763380355
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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 RCV000549706 SCV000643012 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139791 SCV003821690 uncertain significance not provided 2020-03-13 criteria provided, single submitter clinical testing

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