ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.561G>A (p.Met187Ile) (rs869312146)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Albrecht-Kossel-Institute,Medical University Rostock RCV000209103 SCV000246049 pathogenic Fabry disease 2014-01-01 no assertion criteria provided research
Albrecht-Kossel-Institute,Medical University Rostock RCV000209370 SCV000246050 drug response Deoxygalactonojirimycin response 2014-01-01 no assertion criteria provided research

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