ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.1124_1176del (p.Gly375fs)

dbSNP: rs1603037323
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000011502 SCV000031734 pathogenic Fabry disease 1993-12-01 no assertion criteria provided literature only

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