ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.4365del (p.Asp1456fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV003232589 SCV002581612 pathogenic Sotos syndrome 2022-07-28 criteria provided, single submitter clinical testing

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