ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1118G>C (p.Ser373Thr)

gnomAD frequency: 0.00002  dbSNP: rs747621748
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426751 SCV000518914 likely benign not specified 2015-09-17 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 RCV001037976 SCV001201414 uncertain significance Koolen-de Vries syndrome 2021-08-24 criteria provided, single submitter clinical testing

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