ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1339-1G>T

dbSNP: rs1885138493
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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 RCV001290963 SCV001479309 pathogenic Galactosylceramide beta-galactosidase deficiency criteria provided, single submitter clinical testing

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