ClinVar Miner

Submissions for variant NM_001693.4(ATP6V1B2):c.124C>T (p.Gln42Ter)

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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 Medical Genetics, National & Kapodistrian University of Athens RCV003314528 SCV004014014 likely pathogenic Zimmermann-Laband syndrome 2 2023-02-17 criteria provided, single submitter clinical testing PVS1, PM2

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