ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.635A>C (p.His212Pro)

dbSNP: rs141110759
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434828 SCV000525401 likely benign not specified 2016-03-07 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.
Fulgent Genetics, Fulgent Genetics RCV005018730 SCV005644158 uncertain significance Koolen-de Vries syndrome 2024-02-20 criteria provided, single submitter clinical testing

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