ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.256T>C (p.Tyr86His)

dbSNP: rs869312140
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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 RCV000209126 SCV000246035 pathogenic Fabry disease 2014-01-01 no assertion criteria provided research
Albrecht-Kossel-Institute, Medical University Rostock RCV000209399 SCV000246036 drug response Migalastat response 2014-01-01 no assertion criteria provided research

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