ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69984G>A (p.Ala23328=) (rs56052239)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726115 SCV000342074 uncertain significance not provided 2016-07-08 criteria provided, single submitter clinical testing
GeneDx RCV000726115 SCV000530479 likely benign not provided 2019-10-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17344846)
Invitae RCV000726115 SCV000643594 likely benign not provided 2018-07-18 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000295432 SCV001924078 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000726115 SCV001958083 likely benign not provided no assertion criteria provided clinical testing

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