ClinVar Miner

Submissions for variant NM_001693.4(ATP6V1B2):c.1121A>G (p.Glu374Gly)

dbSNP: rs2128886555
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Total submissions: 2
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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 RCV001813609 SCV002060434 pathogenic ATP6V1B2 related neurodevelopmental disorders 2022-01-18 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003314019 SCV004014011 pathogenic Zimmermann-Laband syndrome 2 2021-10-19 criteria provided, single submitter clinical testing PS2, PM2, PM5, PP2, PP3

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