ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.835C>G (p.Gln279Glu)

dbSNP: rs28935485
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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 RCV001781218 SCV002018448 likely pathogenic not provided 2020-08-21 criteria provided, single submitter clinical testing
OMIM RCV000011468 SCV000031700 pathogenic Fabry disease, cardiac variant 1992-04-01 no assertion criteria provided literature only

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