ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.1014del (p.Cys339fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV003232593 SCV002583395 pathogenic Sotos syndrome 2022-02-01 no assertion criteria provided clinical testing

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