ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.164C>T (p.Ala55Val)

dbSNP: rs1213319847
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538252 SCV000645035 uncertain significance Koolen-de Vries syndrome 2021-09-02 criteria provided, single submitter clinical testing

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