ClinVar Miner

Submissions for variant NM_001693.4(ATP6V1B2):c.1241A>T (p.Asp414Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003484531 SCV004229087 uncertain significance Zimmermann-Laband syndrome 2 2023-12-13 criteria provided, single submitter clinical testing

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