ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.411C>A (p.Cys137Ter) (rs537001725)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153239 SCV000331565 pathogenic not provided 2014-03-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000153239 SCV000613317 likely pathogenic not provided 2018-03-14 criteria provided, single submitter clinical testing
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000153239 SCV000221624 likely pathogenic not provided no assertion criteria provided research
Counsyl RCV000984176 SCV001132193 likely pathogenic Fukuyama congenital muscular dystrophy 2014-07-31 no assertion criteria provided clinical testing

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