ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3221G>A (p.Arg1074Gln)

gnomAD frequency: 0.00001  dbSNP: rs763541067
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614993 SCV000727323 likely benign not specified 2018-02-05 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 RCV001360089 SCV001555988 uncertain significance Koolen-de Vries syndrome 2021-08-31 criteria provided, single submitter clinical testing

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