ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.266A>T (p.His89Leu)

dbSNP: rs2125548832
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001806352 SCV002053878 pathogenic Infantile GM1 gangliosidosis criteria provided, single submitter clinical testing

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