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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