ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55452A>G (p.Lys18484=)

dbSNP: rs551509361
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002071892 SCV002449055 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-07-04 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529033 SCV001741804 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700779 SCV001923528 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529033 SCV001958299 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529033 SCV001964328 likely benign not provided no assertion criteria provided clinical testing

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