ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416202 SCV000493532 likely benign not provided 2020-12-01 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
GeneDx RCV000416202 SCV001820667 uncertain significance not provided 2021-03-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown

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