ClinVar Miner

Submissions for variant NM_020944.3(GBA2):c.2330A>C (p.His777Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV003389219 SCV004101242 likely pathogenic Neurodevelopmental disorder 2023-03-21 criteria provided, single submitter clinical testing

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