ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.490G>T (p.Val164Leu) (rs869312144)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Albrecht-Kossel-Institute,Medical University Rostock RCV000209684 SCV000246045 uncertain significance Fabry disease 2014-01-01 no assertion criteria provided research
Albrecht-Kossel-Institute,Medical University Rostock RCV000208886 SCV000246046 drug response Deoxygalactonojirimycin response 2014-01-01 no assertion criteria provided research
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital RCV000209684 SCV000583430 benign Fabry disease 2017-07-03 no assertion criteria provided clinical testing Extensive evaluation of family with this variant. All investigations completely normal, including renal biopsy (with no Gb3 depositys)

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