ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39212-17A>G

gnomAD frequency: 0.00009  dbSNP: rs770122983
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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 RCV002145318 SCV002426634 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323988 SCV004029890 uncertain significance not specified 2023-07-30 criteria provided, single submitter clinical testing

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