ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3030G>A (p.Pro1010=)

gnomAD frequency: 0.00001  dbSNP: rs748843892
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443093 SCV000530048 likely benign not specified 2016-07-20 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 RCV000939387 SCV001085231 likely benign Koolen-de Vries syndrome 2020-10-03 criteria provided, single submitter clinical testing

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