ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.319T>C (p.Phe107Leu) (rs397515616)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623339 SCV000741763 likely pathogenic Inborn genetic diseases 2016-09-12 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics MedGen RCV000059351 SCV000105914 not provided GM1 gangliosidosis type 2 no assertion provided not provided

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