ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter) (rs372751467)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000593271 SCV000704805 likely pathogenic not provided 2016-12-21 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health: University of Minnesota RCV000761231 SCV000891187 likely pathogenic Adams-Oliver syndrome 1 2018-08-14 criteria provided, single submitter clinical testing

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