ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43214-16T>C

gnomAD frequency: 0.00004  dbSNP: rs760520019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002073295 SCV002337861 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703357 SCV001931791 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001703357 SCV001951472 likely benign not provided no assertion criteria provided clinical testing

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