ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2194A>G (p.Thr732Ala)

gnomAD frequency: 0.00003  dbSNP: rs1036089094
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606090 SCV000725787 likely benign not specified 2017-12-19 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 RCV000644666 SCV000766369 benign Koolen-de Vries syndrome 2022-02-02 criteria provided, single submitter clinical testing
PerkinElmer Genomics RCV000644666 SCV003813918 uncertain significance Koolen-de Vries syndrome 2019-12-11 criteria provided, single submitter clinical testing

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