ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1857G>T (p.Arg619=)

dbSNP: rs191986791
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187725 SCV000241322 benign not specified 2014-12-29 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 RCV000644693 SCV000766396 likely benign Koolen-de Vries syndrome 2023-12-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422085 SCV004140739 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing KANSL1: BP4, BP7

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