ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.716C>T (p.Thr239Met) (rs746766232)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000995552 SCV001149787 pathogenic GM1 gangliosidosis type 2 2019-06-11 criteria provided, single submitter clinical testing

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