ClinVar Miner

Submissions for variant NM_000404.3(GLB1):c.[276G>A];[75+5G>C]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000234894 SCV000268646 likely pathogenic Infantile GM1 gangliosidosis 2016-05-11 no assertion criteria provided research Variant c.75+5G>C (ENST00000307363) found to be pathogenic by online software Mutation Taster and Variant c.276G>A reported to cause disease (HGMD ID:CM115631).

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