ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30507G>A (p.Thr10169=)

gnomAD frequency: 0.00004  dbSNP: rs376088498
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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 RCV001503279 SCV001708131 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-08-17 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001796905 SCV002037514 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796905 SCV002037703 likely benign not provided no assertion criteria provided clinical testing

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