ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) (rs587784363)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147340 SCV000194713 likely pathogenic Iron accumulation in brain 2013-02-08 criteria provided, single submitter clinical testing
Institute of Human Genetics,Klinikum rechts der Isar RCV000995606 SCV001149882 pathogenic Infantile neuroaxonal dystrophy 2019-05-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000997929 SCV001153702 likely pathogenic not provided 2019-02-01 criteria provided, single submitter clinical testing

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