ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.3686C>G (p.Ser1229Ter)

dbSNP: rs1763389239
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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, University of Goettingen RCV003232274 SCV001438068 likely pathogenic Sotos syndrome 2020-10-20 criteria provided, single submitter clinical testing ACMG criteria used for classification: PVS1, PM2

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