ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44425-13T>A

gnomAD frequency: 0.00002  dbSNP: rs565739809
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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 RCV002101581 SCV002433478 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331307 SCV004038633 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing

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