ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28098C>G (p.Ser9366Arg)

gnomAD frequency: 0.00007  dbSNP: rs374930292
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704962 SCV000238389 likely benign not provided 2019-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000473059 SCV000542473 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-11-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001704962 SCV003825444 uncertain significance not provided 2021-02-04 criteria provided, single submitter clinical testing

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