ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.1664C>T (p.Ala555Val)

dbSNP: rs925398929
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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 RCV003231586 SCV002177996 uncertain significance Sotos syndrome 2021-09-02 criteria provided, single submitter clinical testing

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