ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.2970G>T (p.Glu990Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003232647 SCV002986842 likely benign Sotos syndrome 2022-06-13 criteria provided, single submitter clinical testing

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