ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30811A>G (p.Ile10271Val)

gnomAD frequency: 0.00012  dbSNP: rs182720979
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000230693 SCV000286568 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-02-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728307 SCV000855861 uncertain significance not provided 2017-07-27 criteria provided, single submitter clinical testing
GeneDx RCV000728307 SCV001793898 likely benign not provided 2020-05-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000728307 SCV003827379 uncertain significance not provided 2019-07-18 criteria provided, single submitter clinical testing

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