ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.740G>A (p.Gly247Asp)

dbSNP: rs1573589807
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824871 SCV000965777 likely pathogenic GM3 synthase deficiency 2015-01-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV001260857 SCV001437953 likely pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing

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