ClinVar Miner

Submissions for variant NM_001353345.2(SETD1B):c.5325dup (p.Ala1776fs)

dbSNP: rs755420944
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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 RCV003314524 SCV004013999 pathogenic Intellectual developmental disorder with seizures and language delay 2023-01-09 criteria provided, single submitter clinical testing PVS1, PS2, PM2

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