ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49049-16G>A

gnomAD frequency: 0.00004  dbSNP: rs369011743
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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 RCV002087905 SCV002374134 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 RCV003120813 SCV003801243 uncertain significance not specified 2023-01-01 criteria provided, single submitter clinical testing

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