ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.517C>T (p.Arg173Ter) (rs386833763)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000049727 SCV000593888 pathogenic Meckel syndrome type 6 2016-03-11 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049727 SCV000082134 probable-pathogenic Meckel syndrome type 6 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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