ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) (rs387906952)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000023588 SCV000790762 pathogenic Galactosylceramide beta-galactosidase deficiency 2017-04-26 criteria provided, single submitter clinical testing
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV001270016 SCV001450435 likely pathogenic not provided 2019-08-06 criteria provided, single submitter clinical testing
OMIM RCV000023588 SCV000044879 pathogenic Galactosylceramide beta-galactosidase deficiency 2010-12-01 no assertion criteria provided literature only

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