ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.617C>G (p.Thr206Ser)

dbSNP: rs761141661
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423972 SCV000515994 likely benign not specified 2015-03-18 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 RCV001362339 SCV001558350 uncertain significance Koolen-de Vries syndrome 2021-08-24 criteria provided, single submitter clinical testing

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