ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.983G>T (p.Gly328Val)

dbSNP: rs28935492
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001782189 SCV002018445 likely pathogenic not provided 2020-02-07 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV001782189 SCV002502752 likely pathogenic not provided 2021-09-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001782189 SCV004702245 pathogenic not provided 2023-12-01 criteria provided, single submitter clinical testing GLA: PM1, PM2, PM5, PS4:Moderate, PP1, PP4

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