ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.638A>G (p.Lys213Arg)

dbSNP: rs869312149
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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 RCV000209822 SCV000246057 pathogenic Fabry disease 2014-01-01 no assertion criteria provided research
Albrecht-Kossel-Institute, Medical University Rostock RCV000209142 SCV000246058 drug response Migalastat response 2014-01-01 no assertion criteria provided research

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