ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.982G>A (p.Gly328Arg)

dbSNP: rs104894832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723846 SCV000700675 pathogenic not provided 2017-04-10 criteria provided, single submitter clinical testing
OMIM RCV000011469 SCV000031701 pathogenic Fabry disease 1992-04-01 no assertion criteria provided literature only

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