ClinVar Miner

Submissions for variant NM_001201402.1(GALC):c.9G>T (p.Gly3=) (rs185943390)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416202 SCV000493532 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765183 SCV000896418 uncertain significance Galactosylceramide beta-galactosidase deficiency 2018-10-31 criteria provided, single submitter clinical testing

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