ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3019C>T (p.Arg1007Trp)

gnomAD frequency: 0.00001  dbSNP: rs1057522661
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441814 SCV000528851 likely benign not specified 2016-06-22 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.
New York Genome Center RCV001255101 SCV001431193 uncertain significance Seizure 2020-02-07 no assertion criteria provided clinical testing

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