ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33340+18C>T

gnomAD frequency: 0.00005  dbSNP: rs761691686
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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 RCV003771843 SCV004576999 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-03-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701227 SCV001920424 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726616 SCV001964267 likely benign not provided no assertion criteria provided clinical testing

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