ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59456C>T (p.Thr19819Ile)

gnomAD frequency: 0.00005  dbSNP: rs758287054
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852832 SCV000995562 likely benign Cardiomyopathy 2019-06-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700470 SCV001919092 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001700470 SCV001928396 uncertain significance not provided no assertion criteria provided clinical testing

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