ClinVar Miner

Submissions for variant NM_018149.7(SMG8):c.971dup (p.Asn324fs)

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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 RCV003764466 SCV004543854 pathogenic Alzahrani-Kuwahara syndrome 2024-01-16 criteria provided, single submitter clinical testing

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