ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.6256A>T (p.Lys2086Ter)

dbSNP: rs1581548112
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV003232133 SCV000965767 likely pathogenic Sotos syndrome 2016-01-02 criteria provided, single submitter clinical testing

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