ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.515G>A (p.Cys172Tyr)

dbSNP: rs869312318
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783366 SCV002024285 pathogenic not provided 2020-02-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503264 SCV002812001 pathogenic Fabry disease 2021-08-26 criteria provided, single submitter clinical testing

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