ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.815A>G (p.Asn272Ser)

dbSNP: rs28935495
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000011521 SCV001366609 pathogenic Fabry disease 2019-07-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM1,PM2,PP2,PP3.
Fulgent Genetics, Fulgent Genetics RCV000011521 SCV002809734 likely pathogenic Fabry disease 2021-07-15 criteria provided, single submitter clinical testing
OMIM RCV000011521 SCV000031753 pathogenic Fabry disease 2004-08-01 no assertion criteria provided literature only

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