ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2725-7A>G

gnomAD frequency: 0.00024  dbSNP: rs186818985
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187737 SCV000241334 benign not specified 2015-09-25 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 RCV001081131 SCV000645051 benign Koolen-de Vries syndrome 2024-01-21 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727176 SCV000706353 uncertain significance not provided 2017-02-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727176 SCV004140731 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing KANSL1: BP4, BS1

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