ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55732+5G>C

dbSNP: rs878854377
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598167 SCV000707567 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000723287 SCV000854676 uncertain significance Tibial muscular dystrophy 2018-05-08 no assertion criteria provided clinical testing

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