ClinVar Miner

Submissions for variant NM_001690.4(ATP6V1A):c.431G>A (p.Gly144Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127286 SCV003803830 uncertain significance Developmental disorder 2022-04-20 criteria provided, single submitter clinical testing

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