ClinVar Miner

Submissions for variant NM_001320.7(CSNK2B):c.472del (p.Tyr158fs)

dbSNP: rs2151188896
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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 RCV001730004 SCV001976742 pathogenic Poirier-Bienvenu neurodevelopmental syndrome 2021-08-10 criteria provided, single submitter clinical testing PVS1, PS2, PM2, PP3

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