ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3091-18C>G

gnomAD frequency: 0.00191  dbSNP: rs186216018
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126401 SCV000169905 benign not specified 2014-02-11 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 RCV002055640 SCV002448599 benign Koolen-de Vries syndrome 2022-10-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002055640 SCV002807180 benign Koolen-de Vries syndrome 2021-08-16 criteria provided, single submitter clinical testing

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