ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.2041G>A (p.Val681Met) (rs200607029)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000206966 SCV000267330 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2016-03-18 criteria provided, single submitter reference population
Baylor Genetics RCV000206966 SCV001163744 likely pathogenic Galactosylceramide beta-galactosidase deficiency criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093132 SCV001249964 likely pathogenic not provided 2019-10-01 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206966 SCV000244018 uncertain significance Galactosylceramide beta-galactosidase deficiency 2013-06-27 no assertion criteria provided literature only

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