ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2493+18A>G

gnomAD frequency: 0.00001  dbSNP: rs750885375
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002073267 SCV002462166 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-07-19 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699699 SCV001920125 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724391 SCV001957365 likely benign not provided no assertion criteria provided clinical testing

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