ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1289+18A>G

gnomAD frequency: 0.00275  dbSNP: rs150225895
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126404 SCV000169908 benign not specified 2013-11-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002055641 SCV002395036 benign Koolen-de Vries syndrome 2023-12-06 criteria provided, single submitter clinical testing

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