ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.621G>A (p.Lys207=) (rs1428763453)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664849 SCV000788868 uncertain significance Galactosylceramide beta-galactosidase deficiency 2016-12-23 criteria provided, single submitter clinical testing
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV000664849 SCV000996293 pathogenic Galactosylceramide beta-galactosidase deficiency criteria provided, single submitter clinical testing Enzyme deficiency

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