ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.985G>A (p.Val329Met) (rs542283928)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,University of Wuerzburg RCV000850319 SCV000992494 uncertain significance Multiple joint contractures no assertion criteria provided clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001007810 SCV001167501 uncertain significance Bethlem myopathy 1 no assertion criteria provided research

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