ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43748-9T>G

gnomAD frequency: 0.00004  dbSNP: rs1048557788
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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 RCV001446718 SCV001649770 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282549 SCV002571019 likely benign not specified 2024-12-12 criteria provided, single submitter clinical testing

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