ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.5616T>A (p.His1872Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV003493299 SCV004239253 likely pathogenic Sotos syndrome 2024-01-25 criteria provided, single submitter clinical testing

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