ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.6613C>T (p.His2205Tyr)

dbSNP: rs1554207316
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV003231572 SCV000782193 likely pathogenic Sotos syndrome 2016-11-01 criteria provided, single submitter clinical testing

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