ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) (rs72555370)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory,M Health: University of Minnesota RCV000760159 SCV000889976 pathogenic Infantile GM1 gangliosidosis 2017-08-29 criteria provided, single submitter clinical testing
OMIM RCV000000993 SCV000021143 pathogenic GM1 gangliosidosis type 2 2003-07-01 no assertion criteria provided literature only

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