ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1768_1769delinsAG (p.Ala590Arg)

dbSNP: rs2078387202
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205472 SCV001376732 likely pathogenic Koolen-de Vries syndrome 2021-08-13 criteria provided, single submitter clinical testing

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