ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2799del (p.His933fs)

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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 RCV002287267 SCV002577510 pathogenic Kleefstra syndrome 1 2022-01-10 criteria provided, single submitter clinical testing PVS1, PS2, PM2

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