ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.1095T>A (p.Tyr365Ter)

dbSNP: rs104894849
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001781220 SCV002024318 pathogenic not provided 2020-06-12 criteria provided, single submitter clinical testing
OMIM RCV000011514 SCV000031746 pathogenic Fabry disease 1996-10-15 no assertion criteria provided literature only

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