ClinVar Miner

Submissions for variant NM_001193466.2(KANSL1):c.1794C>A (p.Ser598Arg) (rs749811911)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828324 SCV000970010 likely benign not provided 2018-06-06 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.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197425 SCV001368159 uncertain significance Koolen-de Vries syndrome 2019-07-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP1.

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