ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.980A>T (p.Gln327Leu)

dbSNP: rs869312160
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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 RCV000209419 SCV000246093 pathogenic Fabry disease 2014-01-01 no assertion criteria provided research
Albrecht-Kossel-Institute, Medical University Rostock RCV000209806 SCV000246094 drug response Migalastat response 2014-01-01 no assertion criteria provided research

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