ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.196G>A (p.Ala66Thr)

dbSNP: rs1057518843
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415102 SCV000492713 likely pathogenic Leukodystrophy; Status epilepticus; Global developmental delay; Seizure; Fetal growth restriction; EEG abnormality; Nystagmus; Hemiparesis; Strabismus; Progressive visual loss; Amblyopia; Small for gestational age; Breech presentation; Neonatal hypoglycemia; Developmental regression; Loss of ambulation; EMG abnormality; EMG: axonal abnormality; Dysmyelinating leukodystrophy 2015-10-28 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198292 SCV001369175 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic.

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