ClinVar Miner

Submissions for variant NM_001267550.1(TTN):c.32471-1G>A (rs371725574)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000723286 SCV000854675 likely pathogenic Distal myopathy Markesbery-Griggs type 2018-05-08 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174435 SCV000225736 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing

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