ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.60097T>G (p.Leu20033Val)

gnomAD frequency: 0.00002  dbSNP: rs878993043
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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 RCV000643187 SCV000764874 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003488757 SCV004237388 uncertain significance not provided 2023-08-02 criteria provided, single submitter clinical testing

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