ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.13632C>T (p.Asp4544=)

gnomAD frequency: 0.00008  dbSNP: rs146750710
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Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001554892 SCV001776218 likely benign not provided 2019-04-08 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001729947 SCV001979173 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001554892 SCV001979706 likely benign not provided no assertion criteria provided clinical testing

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