ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1394C>T (p.Thr465Ile) (rs1566974586)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Aziz Sancar Institute of Experimental Medicine,Istanbul University RCV000680275 SCV000778796 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2017-05-15 no assertion criteria provided research This variant detected in a consanguineous family from Turkey was utilized to confirm clinical diagnosis as Krabbe Disease.

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