ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2838-8G>A

dbSNP: rs1355646117
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001481090 SCV001685424 likely benign Koolen-de Vries syndrome 2019-07-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426145 SCV004140730 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing KANSL1: BP4

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