ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.6683_6684delinsCT (p.Leu2228Pro)

dbSNP: rs1760072488
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003232233 SCV001383239 uncertain significance Sotos syndrome 2021-08-27 criteria provided, single submitter clinical testing

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