ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98781T>C (p.Ser32927=)

gnomAD frequency: 0.00001  dbSNP: rs750855113
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177484 SCV000229349 uncertain significance not provided 2014-12-23 criteria provided, single submitter clinical testing
Invitae RCV001079949 SCV001092153 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000177484 SCV001742190 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000177484 SCV001953964 likely benign not provided no assertion criteria provided clinical testing

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